publisci 0.1.2
This diff represents the content of publicly available package versions that have been released to one of the supported registries. The information contained in this diff is provided for informational purposes only and reflects changes between package versions as they appear in their respective public registries.
- checksums.yaml +7 -0
- data/.document +5 -0
- data/.rspec +1 -0
- data/.travis.yml +13 -0
- data/Gemfile +36 -0
- data/LICENSE.txt +20 -0
- data/README.md +51 -0
- data/README.rdoc +48 -0
- data/Rakefile +68 -0
- data/bin/bio-publisci +106 -0
- data/bin/bio-publisci-server +50 -0
- data/examples/bio-band_integration.rb +9 -0
- data/examples/no_magic.prov +58 -0
- data/examples/no_magic.rb +58 -0
- data/examples/orm.prov +48 -0
- data/examples/primer-full.prov +120 -0
- data/examples/primer.prov +66 -0
- data/examples/prov_dsl.prov +85 -0
- data/examples/safe_gen.rb +7 -0
- data/examples/visualization/primer.prov +66 -0
- data/examples/visualization/prov_viz.rb +140 -0
- data/examples/visualization/viz.rb +35 -0
- data/features/create_generator.feature +21 -0
- data/features/integration.feature +12 -0
- data/features/integration_steps.rb +10 -0
- data/features/metadata.feature +37 -0
- data/features/metadata_steps.rb +40 -0
- data/features/orm.feature +60 -0
- data/features/orm_steps.rb +74 -0
- data/features/prov_dsl.feature +14 -0
- data/features/prov_dsl_steps.rb +11 -0
- data/features/reader.feature +25 -0
- data/features/reader_steps.rb +61 -0
- data/features/step_definitions/bio-publisci_steps.rb +0 -0
- data/features/store.feature +27 -0
- data/features/store_steps.rb +42 -0
- data/features/support/env.rb +13 -0
- data/features/writer.feature +14 -0
- data/features/writer_steps.rb +24 -0
- data/lib/bio-publisci.rb +64 -0
- data/lib/bio-publisci/analyzer.rb +57 -0
- data/lib/bio-publisci/datacube_model.rb +111 -0
- data/lib/bio-publisci/dataset/ORM/data_cube_orm.rb +240 -0
- data/lib/bio-publisci/dataset/ORM/observation.rb +20 -0
- data/lib/bio-publisci/dataset/configuration.rb +31 -0
- data/lib/bio-publisci/dataset/data_cube.rb +418 -0
- data/lib/bio-publisci/dataset/dataset.rb +11 -0
- data/lib/bio-publisci/dataset/dataset_for.rb +186 -0
- data/lib/bio-publisci/dataset/interactive.rb +72 -0
- data/lib/bio-publisci/dsl/config.rb +34 -0
- data/lib/bio-publisci/dsl/dataset_dsl.rb +93 -0
- data/lib/bio-publisci/dsl/dsl.rb +72 -0
- data/lib/bio-publisci/dsl/metadata_dsl.rb +85 -0
- data/lib/bio-publisci/dsl/prov_dsl.rb +143 -0
- data/lib/bio-publisci/metadata/generator.rb +323 -0
- data/lib/bio-publisci/metadata/metadata.rb +5 -0
- data/lib/bio-publisci/metadata/metadata_model.rb +25 -0
- data/lib/bio-publisci/metadata/prov/activity.rb +88 -0
- data/lib/bio-publisci/metadata/prov/agent.rb +100 -0
- data/lib/bio-publisci/metadata/prov/association.rb +107 -0
- data/lib/bio-publisci/metadata/prov/config.rb +34 -0
- data/lib/bio-publisci/metadata/prov/derivation.rb +60 -0
- data/lib/bio-publisci/metadata/prov/element.rb +120 -0
- data/lib/bio-publisci/metadata/prov/entity.rb +64 -0
- data/lib/bio-publisci/metadata/prov/model/prov_models.rb +109 -0
- data/lib/bio-publisci/metadata/prov/plan.rb +32 -0
- data/lib/bio-publisci/metadata/prov/prov.rb +78 -0
- data/lib/bio-publisci/metadata/prov/role.rb +40 -0
- data/lib/bio-publisci/metadata/prov/usage.rb +64 -0
- data/lib/bio-publisci/metadata/publisher.rb +25 -0
- data/lib/bio-publisci/mixins/custom_predicate.rb +38 -0
- data/lib/bio-publisci/mixins/dereferencable.rb +34 -0
- data/lib/bio-publisci/mixins/registry.rb +27 -0
- data/lib/bio-publisci/mixins/vocabulary.rb +8 -0
- data/lib/bio-publisci/output.rb +27 -0
- data/lib/bio-publisci/parser.rb +266 -0
- data/lib/bio-publisci/post_processor.rb +95 -0
- data/lib/bio-publisci/query/query_helper.rb +123 -0
- data/lib/bio-publisci/r_client.rb +54 -0
- data/lib/bio-publisci/readers/arff.rb +49 -0
- data/lib/bio-publisci/readers/base.rb +57 -0
- data/lib/bio-publisci/readers/csv.rb +88 -0
- data/lib/bio-publisci/readers/dataframe.rb +67 -0
- data/lib/bio-publisci/readers/maf.rb +199 -0
- data/lib/bio-publisci/readers/r_cross.rb +112 -0
- data/lib/bio-publisci/readers/r_matrix.rb +176 -0
- data/lib/bio-publisci/store.rb +56 -0
- data/lib/bio-publisci/writers/arff.rb +91 -0
- data/lib/bio-publisci/writers/base.rb +93 -0
- data/lib/bio-publisci/writers/csv.rb +31 -0
- data/lib/bio-publisci/writers/dataframe.rb +81 -0
- data/lib/bio-publisci/writers/json.rb +18 -0
- data/lib/r2rdf.rb +226 -0
- data/lib/template_bak.rb +12 -0
- data/lib/template_bak/publisci.rb +3 -0
- data/lib/vocabs/cc.rb +18 -0
- data/lib/vocabs/cert.rb +13 -0
- data/lib/vocabs/dc.rb +63 -0
- data/lib/vocabs/dc11.rb +23 -0
- data/lib/vocabs/doap.rb +45 -0
- data/lib/vocabs/exif.rb +168 -0
- data/lib/vocabs/foaf.rb +69 -0
- data/lib/vocabs/geo.rb +13 -0
- data/lib/vocabs/http.rb +26 -0
- data/lib/vocabs/ma.rb +78 -0
- data/lib/vocabs/owl.rb +59 -0
- data/lib/vocabs/rdfs.rb +17 -0
- data/lib/vocabs/rsa.rb +12 -0
- data/lib/vocabs/rss.rb +14 -0
- data/lib/vocabs/sioc.rb +93 -0
- data/lib/vocabs/skos.rb +36 -0
- data/lib/vocabs/wot.rb +21 -0
- data/lib/vocabs/xhtml.rb +9 -0
- data/lib/vocabs/xsd.rb +58 -0
- data/resources/maf_example.maf +10 -0
- data/resources/maf_rdf.ttl +1173 -0
- data/resources/primer.ttl +38 -0
- data/resources/queries/code_resources.rq +10 -0
- data/resources/queries/codes.rq +18 -0
- data/resources/queries/dataset.rq +7 -0
- data/resources/queries/dimension_ranges.rq +8 -0
- data/resources/queries/dimensions.rq +12 -0
- data/resources/queries/gene.rq +16 -0
- data/resources/queries/hugo_to_ensembl.rq +7 -0
- data/resources/queries/maf_column.rq +26 -0
- data/resources/queries/measures.rq +12 -0
- data/resources/queries/observation_labels.rq +8 -0
- data/resources/queries/observations.rq +13 -0
- data/resources/queries/patient.rq +11 -0
- data/resources/queries/patient_list.rq +11 -0
- data/resources/queries/patients_with_mutation.rq +18 -0
- data/resources/queries/properties.rq +8 -0
- data/resources/queries/test.rq +3 -0
- data/resources/weather.numeric.arff +28 -0
- data/scripts/get_gene_lengths.rb +50 -0
- data/scripts/islet_mlratio.rb +6 -0
- data/scripts/scan_islet.rb +6 -0
- data/scripts/update_reference.rb +25 -0
- data/server/helpers.rb +215 -0
- data/server/public/src-min-noconflict/LICENSE +24 -0
- data/server/public/src-min-noconflict/ace.js +11 -0
- data/server/public/src-min-noconflict/ext-chromevox.js +1 -0
- data/server/public/src-min-noconflict/ext-elastic_tabstops_lite.js +1 -0
- data/server/public/src-min-noconflict/ext-emmet.js +1 -0
- data/server/public/src-min-noconflict/ext-keybinding_menu.js +1 -0
- data/server/public/src-min-noconflict/ext-language_tools.js +1 -0
- data/server/public/src-min-noconflict/ext-modelist.js +1 -0
- data/server/public/src-min-noconflict/ext-old_ie.js +1 -0
- data/server/public/src-min-noconflict/ext-searchbox.js +1 -0
- data/server/public/src-min-noconflict/ext-settings_menu.js +1 -0
- data/server/public/src-min-noconflict/ext-spellcheck.js +1 -0
- data/server/public/src-min-noconflict/ext-split.js +1 -0
- data/server/public/src-min-noconflict/ext-static_highlight.js +1 -0
- data/server/public/src-min-noconflict/ext-statusbar.js +1 -0
- data/server/public/src-min-noconflict/ext-textarea.js +1 -0
- data/server/public/src-min-noconflict/ext-themelist.js +1 -0
- data/server/public/src-min-noconflict/ext-whitespace.js +1 -0
- data/server/public/src-min-noconflict/keybinding-emacs.js +1 -0
- data/server/public/src-min-noconflict/keybinding-vim.js +1 -0
- data/server/public/src-min-noconflict/mode-ruby.js +1 -0
- data/server/public/src-min-noconflict/snippets/ruby.js +1 -0
- data/server/public/src-min-noconflict/theme-twilight.js +1 -0
- data/server/public/src-min-noconflict/worker-coffee.js +1 -0
- data/server/public/src-min-noconflict/worker-css.js +1 -0
- data/server/public/src-min-noconflict/worker-javascript.js +1 -0
- data/server/public/src-min-noconflict/worker-json.js +1 -0
- data/server/public/src-min-noconflict/worker-lua.js +1 -0
- data/server/public/src-min-noconflict/worker-php.js +1 -0
- data/server/public/src-min-noconflict/worker-xquery.js +1 -0
- data/server/routes.rb +123 -0
- data/server/views/dsl.haml +65 -0
- data/server/views/dump.haml +3 -0
- data/server/views/import.haml +35 -0
- data/server/views/new_repository.haml +25 -0
- data/server/views/query.haml +28 -0
- data/server/views/repository.haml +25 -0
- data/spec/ORM/data_cube_orm_spec.rb +33 -0
- data/spec/ORM/prov_model_spec.rb +72 -0
- data/spec/analyzer_spec.rb +36 -0
- data/spec/bnode_spec.rb +66 -0
- data/spec/csv/bacon.csv +4 -0
- data/spec/csv/moar_bacon.csv +11 -0
- data/spec/data_cube_spec.rb +169 -0
- data/spec/dataset_for_spec.rb +77 -0
- data/spec/dsl_spec.rb +134 -0
- data/spec/generators/csv_spec.rb +44 -0
- data/spec/generators/dataframe_spec.rb +44 -0
- data/spec/generators/maf_spec.rb +40 -0
- data/spec/generators/r_cross_spec.rb +51 -0
- data/spec/generators/r_matrix_spec.rb +44 -0
- data/spec/length_lookup_spec.rb +0 -0
- data/spec/maf_query_spec.rb +343 -0
- data/spec/metadata/metadata_dsl_spec.rb +68 -0
- data/spec/prov/activity_spec.rb +74 -0
- data/spec/prov/agent_spec.rb +54 -0
- data/spec/prov/association_spec.rb +55 -0
- data/spec/prov/config_spec.rb +28 -0
- data/spec/prov/derivation_spec.rb +30 -0
- data/spec/prov/entity_spec.rb +52 -0
- data/spec/prov/role_spec.rb +94 -0
- data/spec/prov/usage_spec.rb +98 -0
- data/spec/queries/integrity/1.rq +21 -0
- data/spec/queries/integrity/11.rq +29 -0
- data/spec/queries/integrity/12.rq +37 -0
- data/spec/queries/integrity/14.rq +25 -0
- data/spec/queries/integrity/19_1.rq +21 -0
- data/spec/queries/integrity/19_2.rq +15 -0
- data/spec/queries/integrity/2.rq +22 -0
- data/spec/queries/integrity/3.rq +19 -0
- data/spec/queries/integrity/4.rq +13 -0
- data/spec/queries/integrity/5.rq +14 -0
- data/spec/r_builder_spec.rb +33 -0
- data/spec/resource/.RData +0 -0
- data/spec/resource/example.Rhistory +3 -0
- data/spec/spec_helper.rb +17 -0
- data/spec/turtle/bacon +147 -0
- data/spec/turtle/reference +2064 -0
- data/spec/turtle/weather +275 -0
- data/spec/writer_spec.rb +75 -0
- metadata +589 -0
data/lib/vocabs/rdfs.rb
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module RDF
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##
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# RDF Schema (RDFS) vocabulary.
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#
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# @see http://www.w3.org/TR/rdf-schema/
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class RDFS < Vocabulary("http://www.w3.org/2000/01/rdf-schema#")
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property :comment
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property :domain
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property :isDefinedBy
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property :label
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property :member
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property :range
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property :seeAlso
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property :subClassOf
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property :subPropertyOf
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end
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end
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data/lib/vocabs/rsa.rb
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module RDF
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##
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# W3 RSA Keys (RSA) vocabulary.
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#
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# @see http://www.w3.org/ns/auth/rsa#
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# @since 0.2.0
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class RSA < Vocabulary("http://www.w3.org/ns/auth/rsa#")
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property :modulus
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property :private_exponent
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property :public_exponent
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end
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end
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data/lib/vocabs/rss.rb
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module RDF
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##
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# RDF Site Summary (RSS) vocabulary.
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#
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# @see http://web.resource.org/rss/1.0/
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class RSS < Vocabulary("http://purl.org/rss/1.0/")
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property :description
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property :items
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property :link
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property :name
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property :title
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property :url
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end
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end
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data/lib/vocabs/sioc.rb
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module RDF
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##
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# Semantically-Interlinked Online Communities (SIOC) vocabulary.
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#
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# @see http://rdfs.org/sioc/spec/
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class SIOC < Vocabulary("http://rdfs.org/sioc/ns#")
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property :about
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property :account_of
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property :administrator_of
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property :attachment
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property :avatar
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property :container_of
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property :content
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property :content_encoded # @deprecated
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property :created_at # @deprecated
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property :creator_of
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property :description # @deprecated
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property :earlier_version
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property :email
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property :email_sha1
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property :feed
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property :first_name # @deprecated
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property :follows
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property :function_of
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property :group_of # @deprecated
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property :has_administrator
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property :has_container
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property :has_creator
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property :has_discussion
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property :has_function
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property :has_group # @deprecated
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property :has_host
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property :has_member
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property :has_moderator
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property :has_modifier
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property :has_owner
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property :has_parent
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property :has_part # @deprecated
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property :has_reply
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property :has_scope
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property :has_space
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property :has_subscriber
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property :has_usergroup
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property :host_of
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property :id
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property :ip_address
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property :last_activity_date
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property :last_item_date
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property :last_name # @deprecated
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property :last_reply_date
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property :later_version
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property :latest_version
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property :link
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property :links_to
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property :member_of
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property :moderator_of
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property :modified_at # @deprecated
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property :modifier_of
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property :name
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property :next_by_date
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property :next_version
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property :note
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property :num_authors
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property :num_items
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property :num_replies
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property :num_threads
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property :num_views
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property :owner_of
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property :parent_of
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property :part_of # @deprecated
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property :previous_by_date
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property :previous_version
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property :reference # @deprecated
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property :related_to
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property :reply_of
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property :scope_of
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property :sibling
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property :space_of
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property :subject # @deprecated
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property :subscriber_of
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property :title # @deprecated
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property :topic
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property :usergroup_of
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##
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# Semantically-Interlinked Online Communities (SIOC) types vocabulary.
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#
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# @see http://rdfs.org/sioc/spec/#sec-modules
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class Types < RDF::Vocabulary("http://rdfs.org/sioc/types#")
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# TODO
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end
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end
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end
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data/lib/vocabs/skos.rb
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module RDF
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##
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# Simple Knowledge Organization System (SKOS) vocabulary.
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#
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# @see http://www.w3.org/TR/skos-reference/skos.html
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class SKOS < Vocabulary("http://www.w3.org/2004/02/skos/core#")
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property :altLabel
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property :broadMatch
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property :broader
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property :broaderTransitive
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property :changeNote
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property :closeMatch
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property :definition
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+
property :editorialNote
|
|
15
|
+
property :exactMatch
|
|
16
|
+
property :example
|
|
17
|
+
property :hasTopConcept
|
|
18
|
+
property :hiddenLabel
|
|
19
|
+
property :historyNote
|
|
20
|
+
property :inScheme
|
|
21
|
+
property :mappingRelation
|
|
22
|
+
property :member
|
|
23
|
+
property :memberList
|
|
24
|
+
property :narrowMatch
|
|
25
|
+
property :narrower
|
|
26
|
+
property :narrowerTransitive
|
|
27
|
+
property :notation
|
|
28
|
+
property :note
|
|
29
|
+
property :prefLabel
|
|
30
|
+
property :related
|
|
31
|
+
property :relatedMatch
|
|
32
|
+
property :scopeNote
|
|
33
|
+
property :semanticRelation
|
|
34
|
+
property :topConceptOf
|
|
35
|
+
end
|
|
36
|
+
end
|
data/lib/vocabs/wot.rb
ADDED
|
@@ -0,0 +1,21 @@
|
|
|
1
|
+
module RDF
|
|
2
|
+
##
|
|
3
|
+
# Web of Trust (WOT) vocabulary.
|
|
4
|
+
#
|
|
5
|
+
# @see http://xmlns.com/wot/0.1/
|
|
6
|
+
class WOT < Vocabulary("http://xmlns.com/wot/0.1/")
|
|
7
|
+
property :assurance
|
|
8
|
+
property :encryptedTo
|
|
9
|
+
property :encrypter
|
|
10
|
+
property :fingerprint
|
|
11
|
+
property :hasKey
|
|
12
|
+
property :hex_id
|
|
13
|
+
property :identity
|
|
14
|
+
property :length
|
|
15
|
+
property :pubkeyAddress
|
|
16
|
+
property :sigdate
|
|
17
|
+
property :signed
|
|
18
|
+
property :signer
|
|
19
|
+
property :sigtime
|
|
20
|
+
end
|
|
21
|
+
end
|
data/lib/vocabs/xhtml.rb
ADDED
data/lib/vocabs/xsd.rb
ADDED
|
@@ -0,0 +1,58 @@
|
|
|
1
|
+
module RDF
|
|
2
|
+
##
|
|
3
|
+
# XML Schema (XSD) vocabulary.
|
|
4
|
+
#
|
|
5
|
+
# @see http://www.w3.org/XML/Schema
|
|
6
|
+
# @see http://www.w3.org/TR/xmlschema-2/#built-in-datatypes
|
|
7
|
+
class XSD < Vocabulary("http://www.w3.org/2001/XMLSchema#")
|
|
8
|
+
# XML Schema built-in primitive types
|
|
9
|
+
# @see http://www.w3.org/TR/xmlschema-2/#built-in-primitive-datatypes
|
|
10
|
+
property :NOTATION
|
|
11
|
+
property :QName
|
|
12
|
+
property :anyURI
|
|
13
|
+
property :base64Binary
|
|
14
|
+
property :boolean
|
|
15
|
+
property :date
|
|
16
|
+
property :dateTime
|
|
17
|
+
property :decimal
|
|
18
|
+
property :double
|
|
19
|
+
property :duration
|
|
20
|
+
property :float
|
|
21
|
+
property :gDay
|
|
22
|
+
property :gMonth
|
|
23
|
+
property :gMonthDay
|
|
24
|
+
property :gYear
|
|
25
|
+
property :gYearMonth
|
|
26
|
+
property :hexBinary
|
|
27
|
+
property :string
|
|
28
|
+
property :time
|
|
29
|
+
|
|
30
|
+
# XML Schema built-in derived types
|
|
31
|
+
# @see http://www.w3.org/TR/xmlschema-2/#built-in-derived
|
|
32
|
+
property :ENTITIES
|
|
33
|
+
property :ENTITY
|
|
34
|
+
property :ID
|
|
35
|
+
property :IDREF
|
|
36
|
+
property :IDREFS
|
|
37
|
+
property :NCName
|
|
38
|
+
property :NMTOKEN
|
|
39
|
+
property :NMTOKENS
|
|
40
|
+
property :Name
|
|
41
|
+
property :byte
|
|
42
|
+
property :int
|
|
43
|
+
property :integer
|
|
44
|
+
property :language
|
|
45
|
+
property :long
|
|
46
|
+
property :negativeInteger
|
|
47
|
+
property :nonNegativeInteger
|
|
48
|
+
property :nonPositiveInteger
|
|
49
|
+
property :normalizedString
|
|
50
|
+
property :positiveInteger
|
|
51
|
+
property :short
|
|
52
|
+
property :token
|
|
53
|
+
property :unsignedByte
|
|
54
|
+
property :unsignedInt
|
|
55
|
+
property :unsignedLong
|
|
56
|
+
property :unsignedShort
|
|
57
|
+
end
|
|
58
|
+
end
|
|
@@ -0,0 +1,10 @@
|
|
|
1
|
+
#version 2.4
|
|
2
|
+
Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error
|
|
3
|
+
A1BG 0 genome.wustl.edu 37 19 58862784 58862784 + Missense_Mutation SNP C C T novel TCGA-E9-A22B-01A-11D-A159-09 TCGA-E9-A22B-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e46a5d19-2dd7-4c34-8fff-6276278c58b3 f948182a-f814-4e3c-83ee-82b78aa423c1 19 58862784 58862784 C T SNP A1BG NM_130786.3 human genbank 58_37c -1 reviewed missense c.883 p.A295T 0.915 HMMSmart_SM00409,superfamily_Immunoglobulin HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin - no_errors
|
|
4
|
+
A1BG 0 genome.wustl.edu 37 19 58864366 58864366 + Missense_Mutation SNP G G A rs151098196 byFrequency TCGA-E9-A1NH-01A-11D-A14G-09 TCGA-E9-A1NH-11A-33D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 13c312ec-0add-4758-ab8d-c193e2e08c6d 0ee95056-a7cc-415c-a487-3ad08604dfc0 19 58864366 58864366 G A SNP A1BG NM_130786.3 human genbank 58_37c -1 reviewed missense c.268 p.R90C 0.950 HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin - no_errors
|
|
5
|
+
A1CF 29974 genome.wustl.edu 37 10 52595854 52595854 + Missense_Mutation SNP G G A novel TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 52595854 52595854 G A SNP A1CF NM_138932.1 human genbank 58_37c -1 reviewed missense c.584 p.A195V 1.000 HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_dsRNA-binding domain-like,superfamily_RNA-binding domain RBD - no_errors
|
|
6
|
+
A1CF 29974 genome.wustl.edu 37 10 52595937 52595937 + Silent SNP G G A novel TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 10 52595937 52595937 G A SNP A1CF NM_138932.1 human genbank 58_37c -1 reviewed silent c.501 p.I167 0.615 HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_dsRNA-binding domain-like,superfamily_RNA-binding domain RBD - no_errors
|
|
7
|
+
A2BP1 0 genome.wustl.edu 37 16 7568361 7568361 + Silent SNP G G C novel TCGA-D8-A1JN-01A-11D-A13L-09 TCGA-D8-A1JN-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83c7d48-8671-4f27-b3dd-05411fa2f784 c14cac2a-e308-44fa-b1af-ee51511ee0ee 16 7568361 7568361 G C SNP A2BP1 NM_145891.2 human genbank 58_37c +1 reviewed silent c.300 p.T100 0.995 NULL HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 - no_errors
|
|
8
|
+
A2BP1 54715 genome.wustl.edu 37 16 7102099 7102099 + Missense_Mutation SNP G G T novel TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Illumina_WXS_gDNA 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 16 7102099 7102099 G T SNP A2BP1 NM_001142334.1 human genbank 58_37c +1 reviewed missense c.27 p.R9S 1.000 NULL HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD - no_errors
|
|
9
|
+
A2BP1 54715 genome.wustl.edu 37 16 7383011 7383011 + Silent SNP G G A novel TCGA-AR-A1AJ-01A-21D-A12Q-09 TCGA-AR-A1AJ-10A-01D-A12Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Illumina_WXS_gDNA 1 dbGAP Illumina GAIIx 4e1f9084-4729-4b3f-b036-6226d64fd25b 63ee3781-4578-4d19-88e4-c8785fc7987e 16 7383011 7383011 G A SNP A2BP1 NM_145891.2 human genbank 58_37c +1 reviewed silent c.9 p.A3 1.000 NULL HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 - no_errors
|
|
10
|
+
A2M 2 genome.wustl.edu 37 12 9251298 9251298 + Nonsense_Mutation SNP G G A novel TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Illumina_WXS_gDNA 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 12 9251298 9251298 G A SNP A2M NM_000014.4 human genbank 58_37c -1 reviewed nonsense c.1756 p.R586* 0.003 HMMPfam_A2M_N_2 HMMPfam_A2M,HMMPfam_A2M_N,superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_recep,superfamily_Alpha-macroglobulin receptor domain,PatternScan_TONB_DEPENDENT_REC_1,HMMPfam_A2M_N_2,HMMPfam_A2M_comp,HMMPfam_Thiol-ester_cl,PatternScan_ALPHA_2_MACROGLOBULIN - no_errors
|
|
@@ -0,0 +1,1173 @@
|
|
|
1
|
+
@base <http://onto.strinz.me/dc/dataset/maf_example/> .
|
|
2
|
+
@prefix ns: <http://onto.strinz.me/dc/dataset/maf_example/> .
|
|
3
|
+
@prefix qb: <http://purl.org/linked-data/cube#> .
|
|
4
|
+
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
|
|
5
|
+
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
|
|
6
|
+
@prefix prop: <http://onto.strinz.me/properties/> .
|
|
7
|
+
@prefix dct: <http://purl.org/dc/terms/> .
|
|
8
|
+
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
|
|
9
|
+
@prefix cs: <http://onto.strinz.me/dc/dataset/maf_example/cs/> .
|
|
10
|
+
@prefix code: <http://onto.strinz.me/dc/dataset/maf_example/code/> .
|
|
11
|
+
@prefix owl: <http://www.w3.org/2002/07/owl#> .
|
|
12
|
+
@prefix skos: <http://www.w3.org/2004/02/skos/core#> .
|
|
13
|
+
@prefix foaf: <http://xmlns.com/foaf/0.1/> .
|
|
14
|
+
@prefix org: <http://www.w3.org/ns/org#> .
|
|
15
|
+
@prefix prov: <http://www.w3.org/ns/prov#> .
|
|
16
|
+
|
|
17
|
+
ns:dsd-maf_example a qb:DataStructureDefinition;
|
|
18
|
+
qb:component cs:Variant_Classification ;
|
|
19
|
+
qb:component cs:Variant_Type ;
|
|
20
|
+
qb:component cs:dbSNP_Val_Status ;
|
|
21
|
+
qb:component cs:Verification_Status ;
|
|
22
|
+
qb:component cs:Validation_Status ;
|
|
23
|
+
qb:component cs:Mutation_Status ;
|
|
24
|
+
qb:component cs:Sequence_Source ;
|
|
25
|
+
qb:component cs:Sequencer ;
|
|
26
|
+
qb:component cs:Hugo_Symbol ;
|
|
27
|
+
qb:component cs:Entrez_Gene_Id ;
|
|
28
|
+
qb:component cs:Center ;
|
|
29
|
+
qb:component cs:NCBI_Build ;
|
|
30
|
+
qb:component cs:Chromosome ;
|
|
31
|
+
qb:component cs:Start_Position ;
|
|
32
|
+
qb:component cs:End_Position ;
|
|
33
|
+
qb:component cs:Strand ;
|
|
34
|
+
qb:component cs:Reference_Allele ;
|
|
35
|
+
qb:component cs:Tumor_Seq_Allele1 ;
|
|
36
|
+
qb:component cs:Tumor_Seq_Allele2 ;
|
|
37
|
+
qb:component cs:dbSNP_RS ;
|
|
38
|
+
qb:component cs:Tumor_Sample_Barcode ;
|
|
39
|
+
qb:component cs:Matched_Norm_Sample_Barcode ;
|
|
40
|
+
qb:component cs:Match_Norm_Seq_Allele1 ;
|
|
41
|
+
qb:component cs:Match_Norm_Seq_Allele2 ;
|
|
42
|
+
qb:component cs:Tumor_Validation_Allele1 ;
|
|
43
|
+
qb:component cs:Tumor_Validation_Allele2 ;
|
|
44
|
+
qb:component cs:Match_Norm_Validation_Allele1 ;
|
|
45
|
+
qb:component cs:Match_Norm_Validation_Allele2 ;
|
|
46
|
+
qb:component cs:Sequencing_Phase ;
|
|
47
|
+
qb:component cs:Validation_Method ;
|
|
48
|
+
qb:component cs:Score ;
|
|
49
|
+
qb:component cs:BAM_File ;
|
|
50
|
+
qb:component cs:Tumor_Sample_UUID ;
|
|
51
|
+
qb:component cs:Matched_Norm_Sample_UUID ;
|
|
52
|
+
qb:component cs:patient_id ;
|
|
53
|
+
qb:component cs:sample_id .
|
|
54
|
+
|
|
55
|
+
ns:dataset-maf_example a qb:DataSet ;
|
|
56
|
+
rdfs:label "maf_example"@en ;
|
|
57
|
+
qb:structure ns:dsd-maf_example .
|
|
58
|
+
|
|
59
|
+
cs:Variant_Classification a qb:ComponentSpecification ;
|
|
60
|
+
rdfs:label "Variant_Classification" ;
|
|
61
|
+
qb:dimension prop:Variant_Classification .
|
|
62
|
+
|
|
63
|
+
cs:Variant_Type a qb:ComponentSpecification ;
|
|
64
|
+
rdfs:label "Variant_Type" ;
|
|
65
|
+
qb:dimension prop:Variant_Type .
|
|
66
|
+
|
|
67
|
+
cs:dbSNP_Val_Status a qb:ComponentSpecification ;
|
|
68
|
+
rdfs:label "dbSNP_Val_Status" ;
|
|
69
|
+
qb:dimension prop:dbSNP_Val_Status .
|
|
70
|
+
|
|
71
|
+
cs:Verification_Status a qb:ComponentSpecification ;
|
|
72
|
+
rdfs:label "Verification_Status" ;
|
|
73
|
+
qb:dimension prop:Verification_Status .
|
|
74
|
+
|
|
75
|
+
cs:Validation_Status a qb:ComponentSpecification ;
|
|
76
|
+
rdfs:label "Validation_Status" ;
|
|
77
|
+
qb:dimension prop:Validation_Status .
|
|
78
|
+
|
|
79
|
+
cs:Mutation_Status a qb:ComponentSpecification ;
|
|
80
|
+
rdfs:label "Mutation_Status" ;
|
|
81
|
+
qb:dimension prop:Mutation_Status .
|
|
82
|
+
|
|
83
|
+
cs:Sequence_Source a qb:ComponentSpecification ;
|
|
84
|
+
rdfs:label "Sequence_Source" ;
|
|
85
|
+
qb:dimension prop:Sequence_Source .
|
|
86
|
+
|
|
87
|
+
cs:Sequencer a qb:ComponentSpecification ;
|
|
88
|
+
rdfs:label "Sequencer" ;
|
|
89
|
+
qb:dimension prop:Sequencer .
|
|
90
|
+
|
|
91
|
+
cs:Hugo_Symbol a qb:ComponentSpecification ;
|
|
92
|
+
rdfs:label "Hugo_Symbol" ;
|
|
93
|
+
qb:measure prop:Hugo_Symbol .
|
|
94
|
+
|
|
95
|
+
cs:Entrez_Gene_Id a qb:ComponentSpecification ;
|
|
96
|
+
rdfs:label "Entrez_Gene_Id" ;
|
|
97
|
+
qb:measure prop:Entrez_Gene_Id .
|
|
98
|
+
|
|
99
|
+
cs:Center a qb:ComponentSpecification ;
|
|
100
|
+
rdfs:label "Center" ;
|
|
101
|
+
qb:measure prop:Center .
|
|
102
|
+
|
|
103
|
+
cs:NCBI_Build a qb:ComponentSpecification ;
|
|
104
|
+
rdfs:label "NCBI_Build" ;
|
|
105
|
+
qb:measure prop:NCBI_Build .
|
|
106
|
+
|
|
107
|
+
cs:Chromosome a qb:ComponentSpecification ;
|
|
108
|
+
rdfs:label "Chromosome" ;
|
|
109
|
+
qb:measure prop:Chromosome .
|
|
110
|
+
|
|
111
|
+
cs:Start_Position a qb:ComponentSpecification ;
|
|
112
|
+
rdfs:label "Start_Position" ;
|
|
113
|
+
qb:measure prop:Start_Position .
|
|
114
|
+
|
|
115
|
+
cs:End_Position a qb:ComponentSpecification ;
|
|
116
|
+
rdfs:label "End_Position" ;
|
|
117
|
+
qb:measure prop:End_Position .
|
|
118
|
+
|
|
119
|
+
cs:Strand a qb:ComponentSpecification ;
|
|
120
|
+
rdfs:label "Strand" ;
|
|
121
|
+
qb:measure prop:Strand .
|
|
122
|
+
|
|
123
|
+
cs:Reference_Allele a qb:ComponentSpecification ;
|
|
124
|
+
rdfs:label "Reference_Allele" ;
|
|
125
|
+
qb:measure prop:Reference_Allele .
|
|
126
|
+
|
|
127
|
+
cs:Tumor_Seq_Allele1 a qb:ComponentSpecification ;
|
|
128
|
+
rdfs:label "Tumor_Seq_Allele1" ;
|
|
129
|
+
qb:measure prop:Tumor_Seq_Allele1 .
|
|
130
|
+
|
|
131
|
+
cs:Tumor_Seq_Allele2 a qb:ComponentSpecification ;
|
|
132
|
+
rdfs:label "Tumor_Seq_Allele2" ;
|
|
133
|
+
qb:measure prop:Tumor_Seq_Allele2 .
|
|
134
|
+
|
|
135
|
+
cs:dbSNP_RS a qb:ComponentSpecification ;
|
|
136
|
+
rdfs:label "dbSNP_RS" ;
|
|
137
|
+
qb:measure prop:dbSNP_RS .
|
|
138
|
+
|
|
139
|
+
cs:Tumor_Sample_Barcode a qb:ComponentSpecification ;
|
|
140
|
+
rdfs:label "Tumor_Sample_Barcode" ;
|
|
141
|
+
qb:measure prop:Tumor_Sample_Barcode .
|
|
142
|
+
|
|
143
|
+
cs:Matched_Norm_Sample_Barcode a qb:ComponentSpecification ;
|
|
144
|
+
rdfs:label "Matched_Norm_Sample_Barcode" ;
|
|
145
|
+
qb:measure prop:Matched_Norm_Sample_Barcode .
|
|
146
|
+
|
|
147
|
+
cs:Match_Norm_Seq_Allele1 a qb:ComponentSpecification ;
|
|
148
|
+
rdfs:label "Match_Norm_Seq_Allele1" ;
|
|
149
|
+
qb:measure prop:Match_Norm_Seq_Allele1 .
|
|
150
|
+
|
|
151
|
+
cs:Match_Norm_Seq_Allele2 a qb:ComponentSpecification ;
|
|
152
|
+
rdfs:label "Match_Norm_Seq_Allele2" ;
|
|
153
|
+
qb:measure prop:Match_Norm_Seq_Allele2 .
|
|
154
|
+
|
|
155
|
+
cs:Tumor_Validation_Allele1 a qb:ComponentSpecification ;
|
|
156
|
+
rdfs:label "Tumor_Validation_Allele1" ;
|
|
157
|
+
qb:measure prop:Tumor_Validation_Allele1 .
|
|
158
|
+
|
|
159
|
+
cs:Tumor_Validation_Allele2 a qb:ComponentSpecification ;
|
|
160
|
+
rdfs:label "Tumor_Validation_Allele2" ;
|
|
161
|
+
qb:measure prop:Tumor_Validation_Allele2 .
|
|
162
|
+
|
|
163
|
+
cs:Match_Norm_Validation_Allele1 a qb:ComponentSpecification ;
|
|
164
|
+
rdfs:label "Match_Norm_Validation_Allele1" ;
|
|
165
|
+
qb:measure prop:Match_Norm_Validation_Allele1 .
|
|
166
|
+
|
|
167
|
+
cs:Match_Norm_Validation_Allele2 a qb:ComponentSpecification ;
|
|
168
|
+
rdfs:label "Match_Norm_Validation_Allele2" ;
|
|
169
|
+
qb:measure prop:Match_Norm_Validation_Allele2 .
|
|
170
|
+
|
|
171
|
+
cs:Sequencing_Phase a qb:ComponentSpecification ;
|
|
172
|
+
rdfs:label "Sequencing_Phase" ;
|
|
173
|
+
qb:measure prop:Sequencing_Phase .
|
|
174
|
+
|
|
175
|
+
cs:Validation_Method a qb:ComponentSpecification ;
|
|
176
|
+
rdfs:label "Validation_Method" ;
|
|
177
|
+
qb:measure prop:Validation_Method .
|
|
178
|
+
|
|
179
|
+
cs:Score a qb:ComponentSpecification ;
|
|
180
|
+
rdfs:label "Score" ;
|
|
181
|
+
qb:measure prop:Score .
|
|
182
|
+
|
|
183
|
+
cs:BAM_File a qb:ComponentSpecification ;
|
|
184
|
+
rdfs:label "BAM_File" ;
|
|
185
|
+
qb:measure prop:BAM_File .
|
|
186
|
+
|
|
187
|
+
cs:Tumor_Sample_UUID a qb:ComponentSpecification ;
|
|
188
|
+
rdfs:label "Tumor_Sample_UUID" ;
|
|
189
|
+
qb:measure prop:Tumor_Sample_UUID .
|
|
190
|
+
|
|
191
|
+
cs:Matched_Norm_Sample_UUID a qb:ComponentSpecification ;
|
|
192
|
+
rdfs:label "Matched_Norm_Sample_UUID" ;
|
|
193
|
+
qb:measure prop:Matched_Norm_Sample_UUID .
|
|
194
|
+
|
|
195
|
+
cs:patient_id a qb:ComponentSpecification ;
|
|
196
|
+
rdfs:label "patient_id" ;
|
|
197
|
+
qb:measure prop:patient_id .
|
|
198
|
+
|
|
199
|
+
cs:sample_id a qb:ComponentSpecification ;
|
|
200
|
+
rdfs:label "sample_id" ;
|
|
201
|
+
qb:measure prop:sample_id .
|
|
202
|
+
|
|
203
|
+
prop:Hugo_Symbol a rdf:Property, qb:MeasureProperty ;
|
|
204
|
+
rdfs:label "Hugo_Symbol"@en .
|
|
205
|
+
|
|
206
|
+
prop:Entrez_Gene_Id a rdf:Property, qb:MeasureProperty ;
|
|
207
|
+
rdfs:label "Entrez_Gene_Id"@en .
|
|
208
|
+
|
|
209
|
+
prop:Center a rdf:Property, qb:MeasureProperty ;
|
|
210
|
+
rdfs:label "Center"@en ;
|
|
211
|
+
rdfs:range xsd:string .
|
|
212
|
+
|
|
213
|
+
prop:NCBI_Build a rdf:Property, qb:MeasureProperty ;
|
|
214
|
+
rdfs:label "NCBI_Build"@en ;
|
|
215
|
+
rdfs:range xsd:int .
|
|
216
|
+
|
|
217
|
+
prop:Chromosome a rdf:Property, qb:MeasureProperty ;
|
|
218
|
+
rdfs:label "Chromosome"@en ;
|
|
219
|
+
rdfs:range xsd:int .
|
|
220
|
+
|
|
221
|
+
prop:Start_Position a rdf:Property, qb:MeasureProperty ;
|
|
222
|
+
rdfs:label "Start_Position"@en .
|
|
223
|
+
|
|
224
|
+
prop:End_Position a rdf:Property, qb:MeasureProperty ;
|
|
225
|
+
rdfs:label "End_Position"@en .
|
|
226
|
+
|
|
227
|
+
prop:Strand a rdf:Property, qb:MeasureProperty ;
|
|
228
|
+
rdfs:label "Strand"@en .
|
|
229
|
+
|
|
230
|
+
prop:Reference_Allele a rdf:Property, qb:MeasureProperty ;
|
|
231
|
+
rdfs:label "Reference_Allele"@en .
|
|
232
|
+
|
|
233
|
+
prop:Tumor_Seq_Allele1 a rdf:Property, qb:MeasureProperty ;
|
|
234
|
+
rdfs:label "Tumor_Seq_Allele1"@en .
|
|
235
|
+
|
|
236
|
+
prop:Tumor_Seq_Allele2 a rdf:Property, qb:MeasureProperty ;
|
|
237
|
+
rdfs:label "Tumor_Seq_Allele2"@en .
|
|
238
|
+
|
|
239
|
+
prop:dbSNP_RS a rdf:Property, qb:MeasureProperty ;
|
|
240
|
+
rdfs:label "dbSNP_RS"@en .
|
|
241
|
+
|
|
242
|
+
prop:Tumor_Sample_Barcode a rdf:Property, qb:MeasureProperty ;
|
|
243
|
+
rdfs:label "Tumor_Sample_Barcode"@en ;
|
|
244
|
+
rdfs:range xsd:string .
|
|
245
|
+
|
|
246
|
+
prop:Matched_Norm_Sample_Barcode a rdf:Property, qb:MeasureProperty ;
|
|
247
|
+
rdfs:label "Matched_Norm_Sample_Barcode"@en .
|
|
248
|
+
|
|
249
|
+
prop:Match_Norm_Seq_Allele1 a rdf:Property, qb:MeasureProperty ;
|
|
250
|
+
rdfs:label "Match_Norm_Seq_Allele1"@en .
|
|
251
|
+
|
|
252
|
+
prop:Match_Norm_Seq_Allele2 a rdf:Property, qb:MeasureProperty ;
|
|
253
|
+
rdfs:label "Match_Norm_Seq_Allele2"@en .
|
|
254
|
+
|
|
255
|
+
prop:Tumor_Validation_Allele1 a rdf:Property, qb:MeasureProperty ;
|
|
256
|
+
rdfs:label "Tumor_Validation_Allele1"@en .
|
|
257
|
+
|
|
258
|
+
prop:Tumor_Validation_Allele2 a rdf:Property, qb:MeasureProperty ;
|
|
259
|
+
rdfs:label "Tumor_Validation_Allele2"@en .
|
|
260
|
+
|
|
261
|
+
prop:Match_Norm_Validation_Allele1 a rdf:Property, qb:MeasureProperty ;
|
|
262
|
+
rdfs:label "Match_Norm_Validation_Allele1"@en .
|
|
263
|
+
|
|
264
|
+
prop:Match_Norm_Validation_Allele2 a rdf:Property, qb:MeasureProperty ;
|
|
265
|
+
rdfs:label "Match_Norm_Validation_Allele2"@en .
|
|
266
|
+
|
|
267
|
+
prop:Sequencing_Phase a rdf:Property, qb:MeasureProperty ;
|
|
268
|
+
rdfs:label "Sequencing_Phase"@en .
|
|
269
|
+
|
|
270
|
+
prop:Validation_Method a rdf:Property, qb:MeasureProperty ;
|
|
271
|
+
rdfs:label "Validation_Method"@en .
|
|
272
|
+
|
|
273
|
+
prop:Score a rdf:Property, qb:MeasureProperty ;
|
|
274
|
+
rdfs:label "Score"@en .
|
|
275
|
+
|
|
276
|
+
prop:BAM_File a rdf:Property, qb:MeasureProperty ;
|
|
277
|
+
rdfs:label "BAM_File"@en .
|
|
278
|
+
|
|
279
|
+
prop:Tumor_Sample_UUID a rdf:Property, qb:MeasureProperty ;
|
|
280
|
+
rdfs:label "Tumor_Sample_UUID"@en .
|
|
281
|
+
|
|
282
|
+
prop:Matched_Norm_Sample_UUID a rdf:Property, qb:MeasureProperty ;
|
|
283
|
+
rdfs:label "Matched_Norm_Sample_UUID"@en .
|
|
284
|
+
|
|
285
|
+
prop:patient_id a rdf:Property, qb:MeasureProperty ;
|
|
286
|
+
rdfs:label "patient_id"@en .
|
|
287
|
+
|
|
288
|
+
prop:sample_id a rdf:Property, qb:MeasureProperty ;
|
|
289
|
+
rdfs:label "sample_id"@en .
|
|
290
|
+
|
|
291
|
+
prop:Variant_Classification a rdf:Property, qb:DimensionProperty ;
|
|
292
|
+
rdfs:label "Variant_Classification"@en ;
|
|
293
|
+
qb:codeList code:variant_classification ;
|
|
294
|
+
rdfs:range code:Variant_classification .
|
|
295
|
+
|
|
296
|
+
prop:Variant_Type a rdf:Property, qb:DimensionProperty ;
|
|
297
|
+
rdfs:label "Variant_Type"@en ;
|
|
298
|
+
qb:codeList code:variant_type ;
|
|
299
|
+
rdfs:range code:Variant_type .
|
|
300
|
+
|
|
301
|
+
prop:dbSNP_Val_Status a rdf:Property, qb:DimensionProperty ;
|
|
302
|
+
rdfs:label "dbSNP_Val_Status"@en ;
|
|
303
|
+
qb:codeList code:dbsnp_val_status ;
|
|
304
|
+
rdfs:range code:Dbsnp_val_status .
|
|
305
|
+
|
|
306
|
+
prop:Verification_Status a rdf:Property, qb:DimensionProperty ;
|
|
307
|
+
rdfs:label "Verification_Status"@en ;
|
|
308
|
+
qb:codeList code:verification_status ;
|
|
309
|
+
rdfs:range code:Verification_status .
|
|
310
|
+
|
|
311
|
+
prop:Validation_Status a rdf:Property, qb:DimensionProperty ;
|
|
312
|
+
rdfs:label "Validation_Status"@en ;
|
|
313
|
+
qb:codeList code:validation_status ;
|
|
314
|
+
rdfs:range code:Validation_status .
|
|
315
|
+
|
|
316
|
+
prop:Mutation_Status a rdf:Property, qb:DimensionProperty ;
|
|
317
|
+
rdfs:label "Mutation_Status"@en ;
|
|
318
|
+
qb:codeList code:mutation_status ;
|
|
319
|
+
rdfs:range code:Mutation_status .
|
|
320
|
+
|
|
321
|
+
prop:Sequence_Source a rdf:Property, qb:DimensionProperty ;
|
|
322
|
+
rdfs:label "Sequence_Source"@en ;
|
|
323
|
+
qb:codeList code:sequence_source ;
|
|
324
|
+
rdfs:range code:Sequence_source .
|
|
325
|
+
|
|
326
|
+
prop:Sequencer a rdf:Property, qb:DimensionProperty ;
|
|
327
|
+
rdfs:label "Sequencer"@en ;
|
|
328
|
+
qb:codeList code:sequencer ;
|
|
329
|
+
rdfs:range code:Sequencer .
|
|
330
|
+
|
|
331
|
+
code:Variant_classification a rdfs:Class, owl:Class;
|
|
332
|
+
rdfs:subClassOf skos:Concept ;
|
|
333
|
+
rdfs:label "Code list for variant_classification - codelist class"@en;
|
|
334
|
+
rdfs:comment "Specifies the variant_classification for each observation";
|
|
335
|
+
rdfs:seeAlso code:variant_classification .
|
|
336
|
+
|
|
337
|
+
code:variant_classification a skos:ConceptScheme;
|
|
338
|
+
skos:prefLabel "Code list for variant_classification - codelist scheme"@en;
|
|
339
|
+
rdfs:label "Code list for variant_classification - codelist scheme"@en;
|
|
340
|
+
skos:notation "CL_VARIANT_CLASSIFICATION";
|
|
341
|
+
skos:note "Specifies the variant_classification for each observation";
|
|
342
|
+
skos:hasTopConcept <code/variant_classification/Frame_Shift_Del> ;
|
|
343
|
+
skos:hasTopConcept <code/variant_classification/Frame_Shift_Ins> ;
|
|
344
|
+
skos:hasTopConcept <code/variant_classification/In_Frame_Del> ;
|
|
345
|
+
skos:hasTopConcept <code/variant_classification/In_Frame_Ins> ;
|
|
346
|
+
skos:hasTopConcept <code/variant_classification/Missense_Mutation> ;
|
|
347
|
+
skos:hasTopConcept <code/variant_classification/Nonsense_Mutation> ;
|
|
348
|
+
skos:hasTopConcept <code/variant_classification/Silent> ;
|
|
349
|
+
skos:hasTopConcept <code/variant_classification/Splice_Site> ;
|
|
350
|
+
skos:hasTopConcept <code/variant_classification/Translation_Start_Site> ;
|
|
351
|
+
skos:hasTopConcept <code/variant_classification/Nonstop_Mutation> ;
|
|
352
|
+
skos:hasTopConcept <code/variant_classification/3'UTR> ;
|
|
353
|
+
skos:hasTopConcept <code/variant_classification/3'Flank> ;
|
|
354
|
+
skos:hasTopConcept <code/variant_classification/5'UTR> ;
|
|
355
|
+
skos:hasTopConcept <code/variant_classification/5'Flank> ;
|
|
356
|
+
skos:hasTopConcept <code/variant_classification/IGR1> ;
|
|
357
|
+
skos:hasTopConcept <code/variant_classification/Intron> ;
|
|
358
|
+
skos:hasTopConcept <code/variant_classification/RNA> ;
|
|
359
|
+
skos:hasTopConcept <code/variant_classification/Targeted_Region> ;
|
|
360
|
+
.
|
|
361
|
+
|
|
362
|
+
code:Variant_type a rdfs:Class, owl:Class;
|
|
363
|
+
rdfs:subClassOf skos:Concept ;
|
|
364
|
+
rdfs:label "Code list for variant_type - codelist class"@en;
|
|
365
|
+
rdfs:comment "Specifies the variant_type for each observation";
|
|
366
|
+
rdfs:seeAlso code:variant_type .
|
|
367
|
+
|
|
368
|
+
code:variant_type a skos:ConceptScheme;
|
|
369
|
+
skos:prefLabel "Code list for variant_type - codelist scheme"@en;
|
|
370
|
+
rdfs:label "Code list for variant_type - codelist scheme"@en;
|
|
371
|
+
skos:notation "CL_VARIANT_TYPE";
|
|
372
|
+
skos:note "Specifies the variant_type for each observation";
|
|
373
|
+
skos:hasTopConcept <code/variant_type/SNP> ;
|
|
374
|
+
skos:hasTopConcept <code/variant_type/DNP> ;
|
|
375
|
+
skos:hasTopConcept <code/variant_type/TNP> ;
|
|
376
|
+
skos:hasTopConcept <code/variant_type/ONP> ;
|
|
377
|
+
skos:hasTopConcept <code/variant_type/INS> ;
|
|
378
|
+
skos:hasTopConcept <code/variant_type/DEL> ;
|
|
379
|
+
skos:hasTopConcept <code/variant_type/Consolidated> ;
|
|
380
|
+
.
|
|
381
|
+
|
|
382
|
+
code:Dbsnp_val_status a rdfs:Class, owl:Class;
|
|
383
|
+
rdfs:subClassOf skos:Concept ;
|
|
384
|
+
rdfs:label "Code list for dbsnp_val_status - codelist class"@en;
|
|
385
|
+
rdfs:comment "Specifies the dbsnp_val_status for each observation";
|
|
386
|
+
rdfs:seeAlso code:dbsnp_val_status .
|
|
387
|
+
|
|
388
|
+
code:dbsnp_val_status a skos:ConceptScheme;
|
|
389
|
+
skos:prefLabel "Code list for dbsnp_val_status - codelist scheme"@en;
|
|
390
|
+
rdfs:label "Code list for dbsnp_val_status - codelist scheme"@en;
|
|
391
|
+
skos:notation "CL_DBSNP_VAL_STATUS";
|
|
392
|
+
skos:note "Specifies the dbsnp_val_status for each observation";
|
|
393
|
+
skos:hasTopConcept <code/dbsnp_val_status/by1000genomes> ;
|
|
394
|
+
skos:hasTopConcept <code/dbsnp_val_status/by2Hit2Allele> ;
|
|
395
|
+
skos:hasTopConcept <code/dbsnp_val_status/byCluster> ;
|
|
396
|
+
skos:hasTopConcept <code/dbsnp_val_status/byFrequency> ;
|
|
397
|
+
skos:hasTopConcept <code/dbsnp_val_status/byHapMap> ;
|
|
398
|
+
skos:hasTopConcept <code/dbsnp_val_status/byOtherPop> ;
|
|
399
|
+
skos:hasTopConcept <code/dbsnp_val_status/bySubmitter> ;
|
|
400
|
+
skos:hasTopConcept <code/dbsnp_val_status/alternate_allele> ;
|
|
401
|
+
.
|
|
402
|
+
|
|
403
|
+
code:Verification_status a rdfs:Class, owl:Class;
|
|
404
|
+
rdfs:subClassOf skos:Concept ;
|
|
405
|
+
rdfs:label "Code list for verification_status - codelist class"@en;
|
|
406
|
+
rdfs:comment "Specifies the verification_status for each observation";
|
|
407
|
+
rdfs:seeAlso code:verification_status .
|
|
408
|
+
|
|
409
|
+
code:verification_status a skos:ConceptScheme;
|
|
410
|
+
skos:prefLabel "Code list for verification_status - codelist scheme"@en;
|
|
411
|
+
rdfs:label "Code list for verification_status - codelist scheme"@en;
|
|
412
|
+
skos:notation "CL_VERIFICATION_STATUS";
|
|
413
|
+
skos:note "Specifies the verification_status for each observation";
|
|
414
|
+
skos:hasTopConcept <code/verification_status/Verified,> ;
|
|
415
|
+
skos:hasTopConcept <code/verification_status/Unknown> ;
|
|
416
|
+
.
|
|
417
|
+
|
|
418
|
+
code:Validation_status a rdfs:Class, owl:Class;
|
|
419
|
+
rdfs:subClassOf skos:Concept ;
|
|
420
|
+
rdfs:label "Code list for validation_status - codelist class"@en;
|
|
421
|
+
rdfs:comment "Specifies the validation_status for each observation";
|
|
422
|
+
rdfs:seeAlso code:validation_status .
|
|
423
|
+
|
|
424
|
+
code:validation_status a skos:ConceptScheme;
|
|
425
|
+
skos:prefLabel "Code list for validation_status - codelist scheme"@en;
|
|
426
|
+
rdfs:label "Code list for validation_status - codelist scheme"@en;
|
|
427
|
+
skos:notation "CL_VALIDATION_STATUS";
|
|
428
|
+
skos:note "Specifies the validation_status for each observation";
|
|
429
|
+
skos:hasTopConcept <code/validation_status/Untested> ;
|
|
430
|
+
skos:hasTopConcept <code/validation_status/Inconclusive> ;
|
|
431
|
+
skos:hasTopConcept <code/validation_status/Valid> ;
|
|
432
|
+
skos:hasTopConcept <code/validation_status/Invalid> ;
|
|
433
|
+
.
|
|
434
|
+
|
|
435
|
+
code:Mutation_status a rdfs:Class, owl:Class;
|
|
436
|
+
rdfs:subClassOf skos:Concept ;
|
|
437
|
+
rdfs:label "Code list for mutation_status - codelist class"@en;
|
|
438
|
+
rdfs:comment "Specifies the mutation_status for each observation";
|
|
439
|
+
rdfs:seeAlso code:mutation_status .
|
|
440
|
+
|
|
441
|
+
code:mutation_status a skos:ConceptScheme;
|
|
442
|
+
skos:prefLabel "Code list for mutation_status - codelist scheme"@en;
|
|
443
|
+
rdfs:label "Code list for mutation_status - codelist scheme"@en;
|
|
444
|
+
skos:notation "CL_MUTATION_STATUS";
|
|
445
|
+
skos:note "Specifies the mutation_status for each observation";
|
|
446
|
+
skos:hasTopConcept <code/mutation_status/None> ;
|
|
447
|
+
skos:hasTopConcept <code/mutation_status/Germline> ;
|
|
448
|
+
skos:hasTopConcept <code/mutation_status/Somatic> ;
|
|
449
|
+
skos:hasTopConcept <code/mutation_status/LOH> ;
|
|
450
|
+
skos:hasTopConcept <code/mutation_status/Post-transcriptional> ;
|
|
451
|
+
skos:hasTopConcept <code/mutation_status/modification> ;
|
|
452
|
+
skos:hasTopConcept <code/mutation_status/Unknown> ;
|
|
453
|
+
.
|
|
454
|
+
|
|
455
|
+
code:Sequence_source a rdfs:Class, owl:Class;
|
|
456
|
+
rdfs:subClassOf skos:Concept ;
|
|
457
|
+
rdfs:label "Code list for sequence_source - codelist class"@en;
|
|
458
|
+
rdfs:comment "Specifies the sequence_source for each observation";
|
|
459
|
+
rdfs:seeAlso code:sequence_source .
|
|
460
|
+
|
|
461
|
+
code:sequence_source a skos:ConceptScheme;
|
|
462
|
+
skos:prefLabel "Code list for sequence_source - codelist scheme"@en;
|
|
463
|
+
rdfs:label "Code list for sequence_source - codelist scheme"@en;
|
|
464
|
+
skos:notation "CL_SEQUENCE_SOURCE";
|
|
465
|
+
skos:note "Specifies the sequence_source for each observation";
|
|
466
|
+
skos:hasTopConcept <code/sequence_source/WGS> ;
|
|
467
|
+
skos:hasTopConcept <code/sequence_source/WGA> ;
|
|
468
|
+
skos:hasTopConcept <code/sequence_source/WXS> ;
|
|
469
|
+
skos:hasTopConcept <code/sequence_source/RNA-Seq> ;
|
|
470
|
+
skos:hasTopConcept <code/sequence_source/miRNA-Seq> ;
|
|
471
|
+
skos:hasTopConcept <code/sequence_source/Bisulfite-Seq> ;
|
|
472
|
+
skos:hasTopConcept <code/sequence_source/VALIDATION> ;
|
|
473
|
+
skos:hasTopConcept <code/sequence_source/Other> ;
|
|
474
|
+
skos:hasTopConcept <code/sequence_source/ncRNA-Seq> ;
|
|
475
|
+
skos:hasTopConcept <code/sequence_source/WCS> ;
|
|
476
|
+
skos:hasTopConcept <code/sequence_source/CLONE> ;
|
|
477
|
+
skos:hasTopConcept <code/sequence_source/POOLCLONE> ;
|
|
478
|
+
skos:hasTopConcept <code/sequence_source/AMPLICON> ;
|
|
479
|
+
skos:hasTopConcept <code/sequence_source/CLONEEND> ;
|
|
480
|
+
skos:hasTopConcept <code/sequence_source/FINISHING> ;
|
|
481
|
+
skos:hasTopConcept <code/sequence_source/ChIP-Seq> ;
|
|
482
|
+
skos:hasTopConcept <code/sequence_source/MNase-Seq> ;
|
|
483
|
+
skos:hasTopConcept <code/sequence_source/DNase-Hypersensitivity> ;
|
|
484
|
+
skos:hasTopConcept <code/sequence_source/EST> ;
|
|
485
|
+
skos:hasTopConcept <code/sequence_source/FL-cDNA> ;
|
|
486
|
+
skos:hasTopConcept <code/sequence_source/CTS> ;
|
|
487
|
+
skos:hasTopConcept <code/sequence_source/MRE-Seq> ;
|
|
488
|
+
skos:hasTopConcept <code/sequence_source/MeDIP-Seq> ;
|
|
489
|
+
skos:hasTopConcept <code/sequence_source/MBD-Seq> ;
|
|
490
|
+
skos:hasTopConcept <code/sequence_source/Tn-Seq> ;
|
|
491
|
+
skos:hasTopConcept <code/sequence_source/FAIRE-seq> ;
|
|
492
|
+
skos:hasTopConcept <code/sequence_source/SELEX> ;
|
|
493
|
+
skos:hasTopConcept <code/sequence_source/RIP-Seq> ;
|
|
494
|
+
skos:hasTopConcept <code/sequence_source/ChIA-PET> ;
|
|
495
|
+
.
|
|
496
|
+
|
|
497
|
+
code:Sequencer a rdfs:Class, owl:Class;
|
|
498
|
+
rdfs:subClassOf skos:Concept ;
|
|
499
|
+
rdfs:label "Code list for sequencer - codelist class"@en;
|
|
500
|
+
rdfs:comment "Specifies the sequencer for each observation";
|
|
501
|
+
rdfs:seeAlso code:sequencer .
|
|
502
|
+
|
|
503
|
+
code:sequencer a skos:ConceptScheme;
|
|
504
|
+
skos:prefLabel "Code list for sequencer - codelist scheme"@en;
|
|
505
|
+
rdfs:label "Code list for sequencer - codelist scheme"@en;
|
|
506
|
+
skos:notation "CL_SEQUENCER";
|
|
507
|
+
skos:note "Specifies the sequencer for each observation";
|
|
508
|
+
skos:hasTopConcept <code/sequencer/Illumina_GAIIx> ;
|
|
509
|
+
skos:hasTopConcept <code/sequencer/Illumina_HiSeq> ;
|
|
510
|
+
skos:hasTopConcept <code/sequencer/SOLID> ;
|
|
511
|
+
skos:hasTopConcept <code/sequencer/454> ;
|
|
512
|
+
skos:hasTopConcept <code/sequencer/ABI_3730xl> ;
|
|
513
|
+
skos:hasTopConcept <code/sequencer/Ion_Torrent_PGM> ;
|
|
514
|
+
skos:hasTopConcept <code/sequencer/Ion_Torrent_Proton> ;
|
|
515
|
+
skos:hasTopConcept <code/sequencer/PacBio_RS> ;
|
|
516
|
+
skos:hasTopConcept <code/sequencer/Illumina_MiSeq> ;
|
|
517
|
+
skos:hasTopConcept <code/sequencer/Illumina_HiSeq_2500> ;
|
|
518
|
+
skos:hasTopConcept <code/sequencer/454_GS_FLX_Titanium> ;
|
|
519
|
+
skos:hasTopConcept <code/sequencer/AB_SOLiD_4_System> ;
|
|
520
|
+
.
|
|
521
|
+
|
|
522
|
+
<code/variant_classification/Frame_Shift_Del> a skos:Concept, code:Variant_classification;
|
|
523
|
+
skos:topConceptOf code:variant_classification ;
|
|
524
|
+
skos:prefLabel "Frame_Shift_Del" ;
|
|
525
|
+
skos:inScheme code:variant_classification .
|
|
526
|
+
|
|
527
|
+
<code/variant_classification/Frame_Shift_Ins> a skos:Concept, code:Variant_classification;
|
|
528
|
+
skos:topConceptOf code:variant_classification ;
|
|
529
|
+
skos:prefLabel "Frame_Shift_Ins" ;
|
|
530
|
+
skos:inScheme code:variant_classification .
|
|
531
|
+
|
|
532
|
+
<code/variant_classification/In_Frame_Del> a skos:Concept, code:Variant_classification;
|
|
533
|
+
skos:topConceptOf code:variant_classification ;
|
|
534
|
+
skos:prefLabel "In_Frame_Del" ;
|
|
535
|
+
skos:inScheme code:variant_classification .
|
|
536
|
+
|
|
537
|
+
<code/variant_classification/In_Frame_Ins> a skos:Concept, code:Variant_classification;
|
|
538
|
+
skos:topConceptOf code:variant_classification ;
|
|
539
|
+
skos:prefLabel "In_Frame_Ins" ;
|
|
540
|
+
skos:inScheme code:variant_classification .
|
|
541
|
+
|
|
542
|
+
<code/variant_classification/Missense_Mutation> a skos:Concept, code:Variant_classification;
|
|
543
|
+
skos:topConceptOf code:variant_classification ;
|
|
544
|
+
skos:prefLabel "Missense_Mutation" ;
|
|
545
|
+
skos:inScheme code:variant_classification .
|
|
546
|
+
|
|
547
|
+
<code/variant_classification/Nonsense_Mutation> a skos:Concept, code:Variant_classification;
|
|
548
|
+
skos:topConceptOf code:variant_classification ;
|
|
549
|
+
skos:prefLabel "Nonsense_Mutation" ;
|
|
550
|
+
skos:inScheme code:variant_classification .
|
|
551
|
+
|
|
552
|
+
<code/variant_classification/Silent> a skos:Concept, code:Variant_classification;
|
|
553
|
+
skos:topConceptOf code:variant_classification ;
|
|
554
|
+
skos:prefLabel "Silent" ;
|
|
555
|
+
skos:inScheme code:variant_classification .
|
|
556
|
+
|
|
557
|
+
<code/variant_classification/Splice_Site> a skos:Concept, code:Variant_classification;
|
|
558
|
+
skos:topConceptOf code:variant_classification ;
|
|
559
|
+
skos:prefLabel "Splice_Site" ;
|
|
560
|
+
skos:inScheme code:variant_classification .
|
|
561
|
+
|
|
562
|
+
<code/variant_classification/Translation_Start_Site> a skos:Concept, code:Variant_classification;
|
|
563
|
+
skos:topConceptOf code:variant_classification ;
|
|
564
|
+
skos:prefLabel "Translation_Start_Site" ;
|
|
565
|
+
skos:inScheme code:variant_classification .
|
|
566
|
+
|
|
567
|
+
<code/variant_classification/Nonstop_Mutation> a skos:Concept, code:Variant_classification;
|
|
568
|
+
skos:topConceptOf code:variant_classification ;
|
|
569
|
+
skos:prefLabel "Nonstop_Mutation" ;
|
|
570
|
+
skos:inScheme code:variant_classification .
|
|
571
|
+
|
|
572
|
+
<code/variant_classification/3'UTR> a skos:Concept, code:Variant_classification;
|
|
573
|
+
skos:topConceptOf code:variant_classification ;
|
|
574
|
+
skos:prefLabel "3'UTR" ;
|
|
575
|
+
skos:inScheme code:variant_classification .
|
|
576
|
+
|
|
577
|
+
<code/variant_classification/3'Flank> a skos:Concept, code:Variant_classification;
|
|
578
|
+
skos:topConceptOf code:variant_classification ;
|
|
579
|
+
skos:prefLabel "3'Flank" ;
|
|
580
|
+
skos:inScheme code:variant_classification .
|
|
581
|
+
|
|
582
|
+
<code/variant_classification/5'UTR> a skos:Concept, code:Variant_classification;
|
|
583
|
+
skos:topConceptOf code:variant_classification ;
|
|
584
|
+
skos:prefLabel "5'UTR" ;
|
|
585
|
+
skos:inScheme code:variant_classification .
|
|
586
|
+
|
|
587
|
+
<code/variant_classification/5'Flank> a skos:Concept, code:Variant_classification;
|
|
588
|
+
skos:topConceptOf code:variant_classification ;
|
|
589
|
+
skos:prefLabel "5'Flank" ;
|
|
590
|
+
skos:inScheme code:variant_classification .
|
|
591
|
+
|
|
592
|
+
<code/variant_classification/IGR1> a skos:Concept, code:Variant_classification;
|
|
593
|
+
skos:topConceptOf code:variant_classification ;
|
|
594
|
+
skos:prefLabel "IGR1" ;
|
|
595
|
+
skos:inScheme code:variant_classification .
|
|
596
|
+
|
|
597
|
+
<code/variant_classification/Intron> a skos:Concept, code:Variant_classification;
|
|
598
|
+
skos:topConceptOf code:variant_classification ;
|
|
599
|
+
skos:prefLabel "Intron" ;
|
|
600
|
+
skos:inScheme code:variant_classification .
|
|
601
|
+
|
|
602
|
+
<code/variant_classification/RNA> a skos:Concept, code:Variant_classification;
|
|
603
|
+
skos:topConceptOf code:variant_classification ;
|
|
604
|
+
skos:prefLabel "RNA" ;
|
|
605
|
+
skos:inScheme code:variant_classification .
|
|
606
|
+
|
|
607
|
+
<code/variant_classification/Targeted_Region> a skos:Concept, code:Variant_classification;
|
|
608
|
+
skos:topConceptOf code:variant_classification ;
|
|
609
|
+
skos:prefLabel "Targeted_Region" ;
|
|
610
|
+
skos:inScheme code:variant_classification .
|
|
611
|
+
|
|
612
|
+
<code/variant_type/SNP> a skos:Concept, code:Variant_type;
|
|
613
|
+
skos:topConceptOf code:variant_type ;
|
|
614
|
+
skos:prefLabel "SNP" ;
|
|
615
|
+
skos:inScheme code:variant_type .
|
|
616
|
+
|
|
617
|
+
<code/variant_type/DNP> a skos:Concept, code:Variant_type;
|
|
618
|
+
skos:topConceptOf code:variant_type ;
|
|
619
|
+
skos:prefLabel "DNP" ;
|
|
620
|
+
skos:inScheme code:variant_type .
|
|
621
|
+
|
|
622
|
+
<code/variant_type/TNP> a skos:Concept, code:Variant_type;
|
|
623
|
+
skos:topConceptOf code:variant_type ;
|
|
624
|
+
skos:prefLabel "TNP" ;
|
|
625
|
+
skos:inScheme code:variant_type .
|
|
626
|
+
|
|
627
|
+
<code/variant_type/ONP> a skos:Concept, code:Variant_type;
|
|
628
|
+
skos:topConceptOf code:variant_type ;
|
|
629
|
+
skos:prefLabel "ONP" ;
|
|
630
|
+
skos:inScheme code:variant_type .
|
|
631
|
+
|
|
632
|
+
<code/variant_type/INS> a skos:Concept, code:Variant_type;
|
|
633
|
+
skos:topConceptOf code:variant_type ;
|
|
634
|
+
skos:prefLabel "INS" ;
|
|
635
|
+
skos:inScheme code:variant_type .
|
|
636
|
+
|
|
637
|
+
<code/variant_type/DEL> a skos:Concept, code:Variant_type;
|
|
638
|
+
skos:topConceptOf code:variant_type ;
|
|
639
|
+
skos:prefLabel "DEL" ;
|
|
640
|
+
skos:inScheme code:variant_type .
|
|
641
|
+
|
|
642
|
+
<code/variant_type/Consolidated> a skos:Concept, code:Variant_type;
|
|
643
|
+
skos:topConceptOf code:variant_type ;
|
|
644
|
+
skos:prefLabel "Consolidated" ;
|
|
645
|
+
skos:inScheme code:variant_type .
|
|
646
|
+
|
|
647
|
+
<code/dbsnp_val_status/by1000genomes> a skos:Concept, code:Dbsnp_val_status;
|
|
648
|
+
skos:topConceptOf code:dbsnp_val_status ;
|
|
649
|
+
skos:prefLabel "by1000genomes" ;
|
|
650
|
+
skos:inScheme code:dbsnp_val_status .
|
|
651
|
+
|
|
652
|
+
<code/dbsnp_val_status/by2Hit2Allele> a skos:Concept, code:Dbsnp_val_status;
|
|
653
|
+
skos:topConceptOf code:dbsnp_val_status ;
|
|
654
|
+
skos:prefLabel "by2Hit2Allele" ;
|
|
655
|
+
skos:inScheme code:dbsnp_val_status .
|
|
656
|
+
|
|
657
|
+
<code/dbsnp_val_status/byCluster> a skos:Concept, code:Dbsnp_val_status;
|
|
658
|
+
skos:topConceptOf code:dbsnp_val_status ;
|
|
659
|
+
skos:prefLabel "byCluster" ;
|
|
660
|
+
skos:inScheme code:dbsnp_val_status .
|
|
661
|
+
|
|
662
|
+
<code/dbsnp_val_status/byFrequency> a skos:Concept, code:Dbsnp_val_status;
|
|
663
|
+
skos:topConceptOf code:dbsnp_val_status ;
|
|
664
|
+
skos:prefLabel "byFrequency" ;
|
|
665
|
+
skos:inScheme code:dbsnp_val_status .
|
|
666
|
+
|
|
667
|
+
<code/dbsnp_val_status/byHapMap> a skos:Concept, code:Dbsnp_val_status;
|
|
668
|
+
skos:topConceptOf code:dbsnp_val_status ;
|
|
669
|
+
skos:prefLabel "byHapMap" ;
|
|
670
|
+
skos:inScheme code:dbsnp_val_status .
|
|
671
|
+
|
|
672
|
+
<code/dbsnp_val_status/byOtherPop> a skos:Concept, code:Dbsnp_val_status;
|
|
673
|
+
skos:topConceptOf code:dbsnp_val_status ;
|
|
674
|
+
skos:prefLabel "byOtherPop" ;
|
|
675
|
+
skos:inScheme code:dbsnp_val_status .
|
|
676
|
+
|
|
677
|
+
<code/dbsnp_val_status/bySubmitter> a skos:Concept, code:Dbsnp_val_status;
|
|
678
|
+
skos:topConceptOf code:dbsnp_val_status ;
|
|
679
|
+
skos:prefLabel "bySubmitter" ;
|
|
680
|
+
skos:inScheme code:dbsnp_val_status .
|
|
681
|
+
|
|
682
|
+
<code/dbsnp_val_status/alternate_allele> a skos:Concept, code:Dbsnp_val_status;
|
|
683
|
+
skos:topConceptOf code:dbsnp_val_status ;
|
|
684
|
+
skos:prefLabel "alternate_allele" ;
|
|
685
|
+
skos:inScheme code:dbsnp_val_status .
|
|
686
|
+
|
|
687
|
+
<code/verification_status/Verified,> a skos:Concept, code:Verification_status;
|
|
688
|
+
skos:topConceptOf code:verification_status ;
|
|
689
|
+
skos:prefLabel "Verified," ;
|
|
690
|
+
skos:inScheme code:verification_status .
|
|
691
|
+
|
|
692
|
+
<code/verification_status/Unknown> a skos:Concept, code:Verification_status;
|
|
693
|
+
skos:topConceptOf code:verification_status ;
|
|
694
|
+
skos:prefLabel "Unknown" ;
|
|
695
|
+
skos:inScheme code:verification_status .
|
|
696
|
+
|
|
697
|
+
<code/validation_status/Untested> a skos:Concept, code:Validation_status;
|
|
698
|
+
skos:topConceptOf code:validation_status ;
|
|
699
|
+
skos:prefLabel "Untested" ;
|
|
700
|
+
skos:inScheme code:validation_status .
|
|
701
|
+
|
|
702
|
+
<code/validation_status/Inconclusive> a skos:Concept, code:Validation_status;
|
|
703
|
+
skos:topConceptOf code:validation_status ;
|
|
704
|
+
skos:prefLabel "Inconclusive" ;
|
|
705
|
+
skos:inScheme code:validation_status .
|
|
706
|
+
|
|
707
|
+
<code/validation_status/Valid> a skos:Concept, code:Validation_status;
|
|
708
|
+
skos:topConceptOf code:validation_status ;
|
|
709
|
+
skos:prefLabel "Valid" ;
|
|
710
|
+
skos:inScheme code:validation_status .
|
|
711
|
+
|
|
712
|
+
<code/validation_status/Invalid> a skos:Concept, code:Validation_status;
|
|
713
|
+
skos:topConceptOf code:validation_status ;
|
|
714
|
+
skos:prefLabel "Invalid" ;
|
|
715
|
+
skos:inScheme code:validation_status .
|
|
716
|
+
|
|
717
|
+
<code/mutation_status/None> a skos:Concept, code:Mutation_status;
|
|
718
|
+
skos:topConceptOf code:mutation_status ;
|
|
719
|
+
skos:prefLabel "None" ;
|
|
720
|
+
skos:inScheme code:mutation_status .
|
|
721
|
+
|
|
722
|
+
<code/mutation_status/Germline> a skos:Concept, code:Mutation_status;
|
|
723
|
+
skos:topConceptOf code:mutation_status ;
|
|
724
|
+
skos:prefLabel "Germline" ;
|
|
725
|
+
skos:inScheme code:mutation_status .
|
|
726
|
+
|
|
727
|
+
<code/mutation_status/Somatic> a skos:Concept, code:Mutation_status;
|
|
728
|
+
skos:topConceptOf code:mutation_status ;
|
|
729
|
+
skos:prefLabel "Somatic" ;
|
|
730
|
+
skos:inScheme code:mutation_status .
|
|
731
|
+
|
|
732
|
+
<code/mutation_status/LOH> a skos:Concept, code:Mutation_status;
|
|
733
|
+
skos:topConceptOf code:mutation_status ;
|
|
734
|
+
skos:prefLabel "LOH" ;
|
|
735
|
+
skos:inScheme code:mutation_status .
|
|
736
|
+
|
|
737
|
+
<code/mutation_status/Post-transcriptional> a skos:Concept, code:Mutation_status;
|
|
738
|
+
skos:topConceptOf code:mutation_status ;
|
|
739
|
+
skos:prefLabel "Post-transcriptional" ;
|
|
740
|
+
skos:inScheme code:mutation_status .
|
|
741
|
+
|
|
742
|
+
<code/mutation_status/modification> a skos:Concept, code:Mutation_status;
|
|
743
|
+
skos:topConceptOf code:mutation_status ;
|
|
744
|
+
skos:prefLabel "modification" ;
|
|
745
|
+
skos:inScheme code:mutation_status .
|
|
746
|
+
|
|
747
|
+
<code/mutation_status/Unknown> a skos:Concept, code:Mutation_status;
|
|
748
|
+
skos:topConceptOf code:mutation_status ;
|
|
749
|
+
skos:prefLabel "Unknown" ;
|
|
750
|
+
skos:inScheme code:mutation_status .
|
|
751
|
+
|
|
752
|
+
<code/sequence_source/WGS> a skos:Concept, code:Sequence_source;
|
|
753
|
+
skos:topConceptOf code:sequence_source ;
|
|
754
|
+
skos:prefLabel "WGS" ;
|
|
755
|
+
skos:inScheme code:sequence_source .
|
|
756
|
+
|
|
757
|
+
<code/sequence_source/WGA> a skos:Concept, code:Sequence_source;
|
|
758
|
+
skos:topConceptOf code:sequence_source ;
|
|
759
|
+
skos:prefLabel "WGA" ;
|
|
760
|
+
skos:inScheme code:sequence_source .
|
|
761
|
+
|
|
762
|
+
<code/sequence_source/WXS> a skos:Concept, code:Sequence_source;
|
|
763
|
+
skos:topConceptOf code:sequence_source ;
|
|
764
|
+
skos:prefLabel "WXS" ;
|
|
765
|
+
skos:inScheme code:sequence_source .
|
|
766
|
+
|
|
767
|
+
<code/sequence_source/RNA-Seq> a skos:Concept, code:Sequence_source;
|
|
768
|
+
skos:topConceptOf code:sequence_source ;
|
|
769
|
+
skos:prefLabel "RNA-Seq" ;
|
|
770
|
+
skos:inScheme code:sequence_source .
|
|
771
|
+
|
|
772
|
+
<code/sequence_source/miRNA-Seq> a skos:Concept, code:Sequence_source;
|
|
773
|
+
skos:topConceptOf code:sequence_source ;
|
|
774
|
+
skos:prefLabel "miRNA-Seq" ;
|
|
775
|
+
skos:inScheme code:sequence_source .
|
|
776
|
+
|
|
777
|
+
<code/sequence_source/Bisulfite-Seq> a skos:Concept, code:Sequence_source;
|
|
778
|
+
skos:topConceptOf code:sequence_source ;
|
|
779
|
+
skos:prefLabel "Bisulfite-Seq" ;
|
|
780
|
+
skos:inScheme code:sequence_source .
|
|
781
|
+
|
|
782
|
+
<code/sequence_source/VALIDATION> a skos:Concept, code:Sequence_source;
|
|
783
|
+
skos:topConceptOf code:sequence_source ;
|
|
784
|
+
skos:prefLabel "VALIDATION" ;
|
|
785
|
+
skos:inScheme code:sequence_source .
|
|
786
|
+
|
|
787
|
+
<code/sequence_source/Other> a skos:Concept, code:Sequence_source;
|
|
788
|
+
skos:topConceptOf code:sequence_source ;
|
|
789
|
+
skos:prefLabel "Other" ;
|
|
790
|
+
skos:inScheme code:sequence_source .
|
|
791
|
+
|
|
792
|
+
<code/sequence_source/ncRNA-Seq> a skos:Concept, code:Sequence_source;
|
|
793
|
+
skos:topConceptOf code:sequence_source ;
|
|
794
|
+
skos:prefLabel "ncRNA-Seq" ;
|
|
795
|
+
skos:inScheme code:sequence_source .
|
|
796
|
+
|
|
797
|
+
<code/sequence_source/WCS> a skos:Concept, code:Sequence_source;
|
|
798
|
+
skos:topConceptOf code:sequence_source ;
|
|
799
|
+
skos:prefLabel "WCS" ;
|
|
800
|
+
skos:inScheme code:sequence_source .
|
|
801
|
+
|
|
802
|
+
<code/sequence_source/CLONE> a skos:Concept, code:Sequence_source;
|
|
803
|
+
skos:topConceptOf code:sequence_source ;
|
|
804
|
+
skos:prefLabel "CLONE" ;
|
|
805
|
+
skos:inScheme code:sequence_source .
|
|
806
|
+
|
|
807
|
+
<code/sequence_source/POOLCLONE> a skos:Concept, code:Sequence_source;
|
|
808
|
+
skos:topConceptOf code:sequence_source ;
|
|
809
|
+
skos:prefLabel "POOLCLONE" ;
|
|
810
|
+
skos:inScheme code:sequence_source .
|
|
811
|
+
|
|
812
|
+
<code/sequence_source/AMPLICON> a skos:Concept, code:Sequence_source;
|
|
813
|
+
skos:topConceptOf code:sequence_source ;
|
|
814
|
+
skos:prefLabel "AMPLICON" ;
|
|
815
|
+
skos:inScheme code:sequence_source .
|
|
816
|
+
|
|
817
|
+
<code/sequence_source/CLONEEND> a skos:Concept, code:Sequence_source;
|
|
818
|
+
skos:topConceptOf code:sequence_source ;
|
|
819
|
+
skos:prefLabel "CLONEEND" ;
|
|
820
|
+
skos:inScheme code:sequence_source .
|
|
821
|
+
|
|
822
|
+
<code/sequence_source/FINISHING> a skos:Concept, code:Sequence_source;
|
|
823
|
+
skos:topConceptOf code:sequence_source ;
|
|
824
|
+
skos:prefLabel "FINISHING" ;
|
|
825
|
+
skos:inScheme code:sequence_source .
|
|
826
|
+
|
|
827
|
+
<code/sequence_source/ChIP-Seq> a skos:Concept, code:Sequence_source;
|
|
828
|
+
skos:topConceptOf code:sequence_source ;
|
|
829
|
+
skos:prefLabel "ChIP-Seq" ;
|
|
830
|
+
skos:inScheme code:sequence_source .
|
|
831
|
+
|
|
832
|
+
<code/sequence_source/MNase-Seq> a skos:Concept, code:Sequence_source;
|
|
833
|
+
skos:topConceptOf code:sequence_source ;
|
|
834
|
+
skos:prefLabel "MNase-Seq" ;
|
|
835
|
+
skos:inScheme code:sequence_source .
|
|
836
|
+
|
|
837
|
+
<code/sequence_source/DNase-Hypersensitivity> a skos:Concept, code:Sequence_source;
|
|
838
|
+
skos:topConceptOf code:sequence_source ;
|
|
839
|
+
skos:prefLabel "DNase-Hypersensitivity" ;
|
|
840
|
+
skos:inScheme code:sequence_source .
|
|
841
|
+
|
|
842
|
+
<code/sequence_source/EST> a skos:Concept, code:Sequence_source;
|
|
843
|
+
skos:topConceptOf code:sequence_source ;
|
|
844
|
+
skos:prefLabel "EST" ;
|
|
845
|
+
skos:inScheme code:sequence_source .
|
|
846
|
+
|
|
847
|
+
<code/sequence_source/FL-cDNA> a skos:Concept, code:Sequence_source;
|
|
848
|
+
skos:topConceptOf code:sequence_source ;
|
|
849
|
+
skos:prefLabel "FL-cDNA" ;
|
|
850
|
+
skos:inScheme code:sequence_source .
|
|
851
|
+
|
|
852
|
+
<code/sequence_source/CTS> a skos:Concept, code:Sequence_source;
|
|
853
|
+
skos:topConceptOf code:sequence_source ;
|
|
854
|
+
skos:prefLabel "CTS" ;
|
|
855
|
+
skos:inScheme code:sequence_source .
|
|
856
|
+
|
|
857
|
+
<code/sequence_source/MRE-Seq> a skos:Concept, code:Sequence_source;
|
|
858
|
+
skos:topConceptOf code:sequence_source ;
|
|
859
|
+
skos:prefLabel "MRE-Seq" ;
|
|
860
|
+
skos:inScheme code:sequence_source .
|
|
861
|
+
|
|
862
|
+
<code/sequence_source/MeDIP-Seq> a skos:Concept, code:Sequence_source;
|
|
863
|
+
skos:topConceptOf code:sequence_source ;
|
|
864
|
+
skos:prefLabel "MeDIP-Seq" ;
|
|
865
|
+
skos:inScheme code:sequence_source .
|
|
866
|
+
|
|
867
|
+
<code/sequence_source/MBD-Seq> a skos:Concept, code:Sequence_source;
|
|
868
|
+
skos:topConceptOf code:sequence_source ;
|
|
869
|
+
skos:prefLabel "MBD-Seq" ;
|
|
870
|
+
skos:inScheme code:sequence_source .
|
|
871
|
+
|
|
872
|
+
<code/sequence_source/Tn-Seq> a skos:Concept, code:Sequence_source;
|
|
873
|
+
skos:topConceptOf code:sequence_source ;
|
|
874
|
+
skos:prefLabel "Tn-Seq" ;
|
|
875
|
+
skos:inScheme code:sequence_source .
|
|
876
|
+
|
|
877
|
+
<code/sequence_source/FAIRE-seq> a skos:Concept, code:Sequence_source;
|
|
878
|
+
skos:topConceptOf code:sequence_source ;
|
|
879
|
+
skos:prefLabel "FAIRE-seq" ;
|
|
880
|
+
skos:inScheme code:sequence_source .
|
|
881
|
+
|
|
882
|
+
<code/sequence_source/SELEX> a skos:Concept, code:Sequence_source;
|
|
883
|
+
skos:topConceptOf code:sequence_source ;
|
|
884
|
+
skos:prefLabel "SELEX" ;
|
|
885
|
+
skos:inScheme code:sequence_source .
|
|
886
|
+
|
|
887
|
+
<code/sequence_source/RIP-Seq> a skos:Concept, code:Sequence_source;
|
|
888
|
+
skos:topConceptOf code:sequence_source ;
|
|
889
|
+
skos:prefLabel "RIP-Seq" ;
|
|
890
|
+
skos:inScheme code:sequence_source .
|
|
891
|
+
|
|
892
|
+
<code/sequence_source/ChIA-PET> a skos:Concept, code:Sequence_source;
|
|
893
|
+
skos:topConceptOf code:sequence_source ;
|
|
894
|
+
skos:prefLabel "ChIA-PET" ;
|
|
895
|
+
skos:inScheme code:sequence_source .
|
|
896
|
+
|
|
897
|
+
<code/sequencer/Illumina_GAIIx> a skos:Concept, code:Sequencer;
|
|
898
|
+
skos:topConceptOf code:sequencer ;
|
|
899
|
+
skos:prefLabel "Illumina_GAIIx" ;
|
|
900
|
+
skos:inScheme code:sequencer .
|
|
901
|
+
|
|
902
|
+
<code/sequencer/Illumina_HiSeq> a skos:Concept, code:Sequencer;
|
|
903
|
+
skos:topConceptOf code:sequencer ;
|
|
904
|
+
skos:prefLabel "Illumina_HiSeq" ;
|
|
905
|
+
skos:inScheme code:sequencer .
|
|
906
|
+
|
|
907
|
+
<code/sequencer/SOLID> a skos:Concept, code:Sequencer;
|
|
908
|
+
skos:topConceptOf code:sequencer ;
|
|
909
|
+
skos:prefLabel "SOLID" ;
|
|
910
|
+
skos:inScheme code:sequencer .
|
|
911
|
+
|
|
912
|
+
<code/sequencer/454> a skos:Concept, code:Sequencer;
|
|
913
|
+
skos:topConceptOf code:sequencer ;
|
|
914
|
+
skos:prefLabel "454" ;
|
|
915
|
+
skos:inScheme code:sequencer .
|
|
916
|
+
|
|
917
|
+
<code/sequencer/ABI_3730xl> a skos:Concept, code:Sequencer;
|
|
918
|
+
skos:topConceptOf code:sequencer ;
|
|
919
|
+
skos:prefLabel "ABI_3730xl" ;
|
|
920
|
+
skos:inScheme code:sequencer .
|
|
921
|
+
|
|
922
|
+
<code/sequencer/Ion_Torrent_PGM> a skos:Concept, code:Sequencer;
|
|
923
|
+
skos:topConceptOf code:sequencer ;
|
|
924
|
+
skos:prefLabel "Ion_Torrent_PGM" ;
|
|
925
|
+
skos:inScheme code:sequencer .
|
|
926
|
+
|
|
927
|
+
<code/sequencer/Ion_Torrent_Proton> a skos:Concept, code:Sequencer;
|
|
928
|
+
skos:topConceptOf code:sequencer ;
|
|
929
|
+
skos:prefLabel "Ion_Torrent_Proton" ;
|
|
930
|
+
skos:inScheme code:sequencer .
|
|
931
|
+
|
|
932
|
+
<code/sequencer/PacBio_RS> a skos:Concept, code:Sequencer;
|
|
933
|
+
skos:topConceptOf code:sequencer ;
|
|
934
|
+
skos:prefLabel "PacBio_RS" ;
|
|
935
|
+
skos:inScheme code:sequencer .
|
|
936
|
+
|
|
937
|
+
<code/sequencer/Illumina_MiSeq> a skos:Concept, code:Sequencer;
|
|
938
|
+
skos:topConceptOf code:sequencer ;
|
|
939
|
+
skos:prefLabel "Illumina_MiSeq" ;
|
|
940
|
+
skos:inScheme code:sequencer .
|
|
941
|
+
|
|
942
|
+
<code/sequencer/Illumina_HiSeq_2500> a skos:Concept, code:Sequencer;
|
|
943
|
+
skos:topConceptOf code:sequencer ;
|
|
944
|
+
skos:prefLabel "Illumina_HiSeq_2500" ;
|
|
945
|
+
skos:inScheme code:sequencer .
|
|
946
|
+
|
|
947
|
+
<code/sequencer/454_GS_FLX_Titanium> a skos:Concept, code:Sequencer;
|
|
948
|
+
skos:topConceptOf code:sequencer ;
|
|
949
|
+
skos:prefLabel "454_GS_FLX_Titanium" ;
|
|
950
|
+
skos:inScheme code:sequencer .
|
|
951
|
+
|
|
952
|
+
<code/sequencer/AB_SOLiD_4_System> a skos:Concept, code:Sequencer;
|
|
953
|
+
skos:topConceptOf code:sequencer ;
|
|
954
|
+
skos:prefLabel "AB_SOLiD_4_System" ;
|
|
955
|
+
skos:inScheme code:sequencer .
|
|
956
|
+
|
|
957
|
+
ns:obs2 a qb:Observation ;
|
|
958
|
+
qb:dataSet ns:dataset-maf_example ;
|
|
959
|
+
prop:Variant_Classification <code/variant_classification/Missense_Mutation> ;
|
|
960
|
+
prop:Variant_Type <code/variant_type/SNP> ;
|
|
961
|
+
prop:dbSNP_Val_Status <code/dbsnp_val_status/> ;
|
|
962
|
+
prop:Verification_Status <code/verification_status/Unknown> ;
|
|
963
|
+
prop:Validation_Status <code/validation_status/Untested> ;
|
|
964
|
+
prop:Mutation_Status <code/mutation_status/Somatic> ;
|
|
965
|
+
prop:Sequence_Source <code/sequence_source/WXS> ;
|
|
966
|
+
prop:Sequencer <code/sequencer/Illumina_GAIIx> ;
|
|
967
|
+
prop:Hugo_Symbol <http://identifiers.org/hgnc.symbol/A1BG> ;
|
|
968
|
+
prop:Center "genome.wustl.edu" ;
|
|
969
|
+
prop:NCBI_Build 37 ;
|
|
970
|
+
prop:Chromosome 19 ;
|
|
971
|
+
prop:Start_Position 58862784 ;
|
|
972
|
+
prop:End_Position 58862784 ;
|
|
973
|
+
prop:Strand "+" ;
|
|
974
|
+
prop:Reference_Allele "C" ;
|
|
975
|
+
prop:Tumor_Seq_Allele1 "C" ;
|
|
976
|
+
prop:Tumor_Seq_Allele2 "T" ;
|
|
977
|
+
prop:dbSNP_RS "novel" ;
|
|
978
|
+
prop:Tumor_Sample_Barcode "TCGA-E9-A22B-01A-11D-A159-09" ;
|
|
979
|
+
prop:Matched_Norm_Sample_Barcode "TCGA-E9-A22B-10A-01D-A159-09" ;
|
|
980
|
+
prop:Match_Norm_Seq_Allele1 "C" ;
|
|
981
|
+
prop:Match_Norm_Seq_Allele2 "C" ;
|
|
982
|
+
prop:Sequencing_Phase "Phase_IV" ;
|
|
983
|
+
prop:Validation_Method "none" ;
|
|
984
|
+
prop:Score 1 ;
|
|
985
|
+
prop:BAM_File "dbGAP" ;
|
|
986
|
+
prop:Tumor_Sample_UUID "e46a5d19-2dd7-4c34-8fff-6276278c58b3" ;
|
|
987
|
+
prop:Matched_Norm_Sample_UUID "f948182a-f814-4e3c-83ee-82b78aa423c1" ;
|
|
988
|
+
prop:patient_id "E9-A22B" ;
|
|
989
|
+
prop:sample_id "01A-11D-A159-09" ;
|
|
990
|
+
.
|
|
991
|
+
|
|
992
|
+
ns:obs3 a qb:Observation ;
|
|
993
|
+
qb:dataSet ns:dataset-maf_example ;
|
|
994
|
+
prop:Variant_Classification <code/variant_classification/Missense_Mutation> ;
|
|
995
|
+
prop:Variant_Type <code/variant_type/SNP> ;
|
|
996
|
+
prop:dbSNP_Val_Status <code/dbsnp_val_status/byFrequency> ;
|
|
997
|
+
prop:Verification_Status <code/verification_status/Unknown> ;
|
|
998
|
+
prop:Validation_Status <code/validation_status/Untested> ;
|
|
999
|
+
prop:Mutation_Status <code/mutation_status/Somatic> ;
|
|
1000
|
+
prop:Sequence_Source <code/sequence_source/WXS> ;
|
|
1001
|
+
prop:Sequencer <code/sequencer/Illumina_GAIIx> ;
|
|
1002
|
+
prop:Hugo_Symbol <http://identifiers.org/hgnc.symbol/A1BG> ;
|
|
1003
|
+
prop:Center "genome.wustl.edu" ;
|
|
1004
|
+
prop:NCBI_Build 37 ;
|
|
1005
|
+
prop:Chromosome 19 ;
|
|
1006
|
+
prop:Start_Position 58864366 ;
|
|
1007
|
+
prop:End_Position 58864366 ;
|
|
1008
|
+
prop:Strand "+" ;
|
|
1009
|
+
prop:Reference_Allele "G" ;
|
|
1010
|
+
prop:Tumor_Seq_Allele1 "G" ;
|
|
1011
|
+
prop:Tumor_Seq_Allele2 "A" ;
|
|
1012
|
+
prop:dbSNP_RS <http://identifiers.org/dbsnp/151098196> ;
|
|
1013
|
+
prop:Tumor_Sample_Barcode "TCGA-E9-A1NH-01A-11D-A14G-09" ;
|
|
1014
|
+
prop:Matched_Norm_Sample_Barcode "TCGA-E9-A1NH-11A-33D-A14G-09" ;
|
|
1015
|
+
prop:Match_Norm_Seq_Allele1 "G" ;
|
|
1016
|
+
prop:Match_Norm_Seq_Allele2 "G" ;
|
|
1017
|
+
prop:Sequencing_Phase "Phase_IV" ;
|
|
1018
|
+
prop:Validation_Method "none" ;
|
|
1019
|
+
prop:Score 1 ;
|
|
1020
|
+
prop:BAM_File "dbGAP" ;
|
|
1021
|
+
prop:Tumor_Sample_UUID "13c312ec-0add-4758-ab8d-c193e2e08c6d" ;
|
|
1022
|
+
prop:Matched_Norm_Sample_UUID "0ee95056-a7cc-415c-a487-3ad08604dfc0" ;
|
|
1023
|
+
prop:patient_id "E9-A1NH" ;
|
|
1024
|
+
prop:sample_id "01A-11D-A14G-09" ;
|
|
1025
|
+
.
|
|
1026
|
+
|
|
1027
|
+
ns:obs4 a qb:Observation ;
|
|
1028
|
+
qb:dataSet ns:dataset-maf_example ;
|
|
1029
|
+
prop:Variant_Classification <code/variant_classification/Missense_Mutation> ;
|
|
1030
|
+
prop:Variant_Type <code/variant_type/SNP> ;
|
|
1031
|
+
prop:dbSNP_Val_Status <code/dbsnp_val_status/> ;
|
|
1032
|
+
prop:Verification_Status <code/verification_status/Unknown> ;
|
|
1033
|
+
prop:Validation_Status <code/validation_status/Untested> ;
|
|
1034
|
+
prop:Mutation_Status <code/mutation_status/Somatic> ;
|
|
1035
|
+
prop:Sequence_Source <code/sequence_source/WXS> ;
|
|
1036
|
+
prop:Sequencer <code/sequencer/Illumina_GAIIx> ;
|
|
1037
|
+
prop:Hugo_Symbol <http://identifiers.org/hgnc.symbol/A1CF> ;
|
|
1038
|
+
prop:Entrez_Gene_Id <http://identifiers.org/ncbigene/29974> ;
|
|
1039
|
+
prop:Center "genome.wustl.edu" ;
|
|
1040
|
+
prop:NCBI_Build 37 ;
|
|
1041
|
+
prop:Chromosome 10 ;
|
|
1042
|
+
prop:Start_Position 52595854 ;
|
|
1043
|
+
prop:End_Position 52595854 ;
|
|
1044
|
+
prop:Strand "+" ;
|
|
1045
|
+
prop:Reference_Allele "G" ;
|
|
1046
|
+
prop:Tumor_Seq_Allele1 "G" ;
|
|
1047
|
+
prop:Tumor_Seq_Allele2 "A" ;
|
|
1048
|
+
prop:dbSNP_RS "novel" ;
|
|
1049
|
+
prop:Tumor_Sample_Barcode "TCGA-BH-A0HP-01A-12D-A099-09" ;
|
|
1050
|
+
prop:Matched_Norm_Sample_Barcode "TCGA-BH-A0HP-10A-01D-A099-09" ;
|
|
1051
|
+
prop:Match_Norm_Seq_Allele1 "G" ;
|
|
1052
|
+
prop:Match_Norm_Seq_Allele2 "G" ;
|
|
1053
|
+
prop:Sequencing_Phase "Phase_IV" ;
|
|
1054
|
+
prop:Validation_Method "none" ;
|
|
1055
|
+
prop:Score 1 ;
|
|
1056
|
+
prop:BAM_File "dbGAP" ;
|
|
1057
|
+
prop:Tumor_Sample_UUID "ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2" ;
|
|
1058
|
+
prop:Matched_Norm_Sample_UUID "8c059d33-23de-439a-914a-290527c5efbe" ;
|
|
1059
|
+
prop:patient_id "BH-A0HP" ;
|
|
1060
|
+
prop:sample_id "01A-12D-A099-09" ;
|
|
1061
|
+
.
|
|
1062
|
+
|
|
1063
|
+
ns:obs5 a qb:Observation ;
|
|
1064
|
+
qb:dataSet ns:dataset-maf_example ;
|
|
1065
|
+
prop:Variant_Classification <code/variant_classification/Silent> ;
|
|
1066
|
+
prop:Variant_Type <code/variant_type/SNP> ;
|
|
1067
|
+
prop:dbSNP_Val_Status <code/dbsnp_val_status/> ;
|
|
1068
|
+
prop:Verification_Status <code/verification_status/Unknown> ;
|
|
1069
|
+
prop:Validation_Status <code/validation_status/Untested> ;
|
|
1070
|
+
prop:Mutation_Status <code/mutation_status/Somatic> ;
|
|
1071
|
+
prop:Sequence_Source <code/sequence_source/WXS> ;
|
|
1072
|
+
prop:Sequencer <code/sequencer/Illumina_GAIIx> ;
|
|
1073
|
+
prop:Hugo_Symbol <http://identifiers.org/hgnc.symbol/A1CF> ;
|
|
1074
|
+
prop:Entrez_Gene_Id <http://identifiers.org/ncbigene/29974> ;
|
|
1075
|
+
prop:Center "genome.wustl.edu" ;
|
|
1076
|
+
prop:NCBI_Build 37 ;
|
|
1077
|
+
prop:Chromosome 10 ;
|
|
1078
|
+
prop:Start_Position 52595937 ;
|
|
1079
|
+
prop:End_Position 52595937 ;
|
|
1080
|
+
prop:Strand "+" ;
|
|
1081
|
+
prop:Reference_Allele "G" ;
|
|
1082
|
+
prop:Tumor_Seq_Allele1 "G" ;
|
|
1083
|
+
prop:Tumor_Seq_Allele2 "A" ;
|
|
1084
|
+
prop:dbSNP_RS "novel" ;
|
|
1085
|
+
prop:Tumor_Sample_Barcode "TCGA-BH-A18P-01A-11D-A12B-09" ;
|
|
1086
|
+
prop:Matched_Norm_Sample_Barcode "TCGA-BH-A18P-11A-43D-A12B-09" ;
|
|
1087
|
+
prop:Match_Norm_Seq_Allele1 "G" ;
|
|
1088
|
+
prop:Match_Norm_Seq_Allele2 "G" ;
|
|
1089
|
+
prop:Sequencing_Phase "Phase_IV" ;
|
|
1090
|
+
prop:Validation_Method "none" ;
|
|
1091
|
+
prop:Score 1 ;
|
|
1092
|
+
prop:BAM_File "dbGAP" ;
|
|
1093
|
+
prop:Tumor_Sample_UUID "add624a3-57e9-46be-9bcc-3e53d7c2dfb7" ;
|
|
1094
|
+
prop:Matched_Norm_Sample_UUID "5cae8dca-b28a-4483-9c03-6f0645161c04" ;
|
|
1095
|
+
prop:patient_id "BH-A18P" ;
|
|
1096
|
+
prop:sample_id "01A-11D-A12B-09" ;
|
|
1097
|
+
.
|
|
1098
|
+
|
|
1099
|
+
ns:obs6 a qb:Observation ;
|
|
1100
|
+
qb:dataSet ns:dataset-maf_example ;
|
|
1101
|
+
prop:Variant_Classification <code/variant_classification/Silent> ;
|
|
1102
|
+
prop:Variant_Type <code/variant_type/SNP> ;
|
|
1103
|
+
prop:dbSNP_Val_Status <code/dbsnp_val_status/> ;
|
|
1104
|
+
prop:Verification_Status <code/verification_status/Unknown> ;
|
|
1105
|
+
prop:Validation_Status <code/validation_status/Untested> ;
|
|
1106
|
+
prop:Mutation_Status <code/mutation_status/Somatic> ;
|
|
1107
|
+
prop:Sequence_Source <code/sequence_source/WXS> ;
|
|
1108
|
+
prop:Sequencer <code/sequencer/Illumina_GAIIx> ;
|
|
1109
|
+
prop:Hugo_Symbol <http://identifiers.org/hgnc.symbol/A2BP1> ;
|
|
1110
|
+
prop:Center "genome.wustl.edu" ;
|
|
1111
|
+
prop:NCBI_Build 37 ;
|
|
1112
|
+
prop:Chromosome 16 ;
|
|
1113
|
+
prop:Start_Position 7568361 ;
|
|
1114
|
+
prop:End_Position 7568361 ;
|
|
1115
|
+
prop:Strand "+" ;
|
|
1116
|
+
prop:Reference_Allele "G" ;
|
|
1117
|
+
prop:Tumor_Seq_Allele1 "G" ;
|
|
1118
|
+
prop:Tumor_Seq_Allele2 "C" ;
|
|
1119
|
+
prop:dbSNP_RS "novel" ;
|
|
1120
|
+
prop:Tumor_Sample_Barcode "TCGA-D8-A1JN-01A-11D-A13L-09" ;
|
|
1121
|
+
prop:Matched_Norm_Sample_Barcode "TCGA-D8-A1JN-10A-01D-A13O-09" ;
|
|
1122
|
+
prop:Match_Norm_Seq_Allele1 "G" ;
|
|
1123
|
+
prop:Match_Norm_Seq_Allele2 "G" ;
|
|
1124
|
+
prop:Sequencing_Phase "Phase_IV" ;
|
|
1125
|
+
prop:Validation_Method "none" ;
|
|
1126
|
+
prop:Score 1 ;
|
|
1127
|
+
prop:BAM_File "dbGAP" ;
|
|
1128
|
+
prop:Tumor_Sample_UUID "c83c7d48-8671-4f27-b3dd-05411fa2f784" ;
|
|
1129
|
+
prop:Matched_Norm_Sample_UUID "c14cac2a-e308-44fa-b1af-ee51511ee0ee" ;
|
|
1130
|
+
prop:patient_id "D8-A1JN" ;
|
|
1131
|
+
prop:sample_id "01A-11D-A13L-09" ;
|
|
1132
|
+
.
|
|
1133
|
+
|
|
1134
|
+
ns:obs7 a qb:Observation ;
|
|
1135
|
+
qb:dataSet ns:dataset-maf_example ;
|
|
1136
|
+
prop:Variant_Classification <code/variant_classification/Missense_Mutation> ;
|
|
1137
|
+
prop:Variant_Type <code/variant_type/SNP> ;
|
|
1138
|
+
prop:dbSNP_Val_Status <code/dbsnp_val_status/> ;
|
|
1139
|
+
prop:Verification_Status <code/verification_status/Unknown> ;
|
|
1140
|
+
prop:Validation_Status <code/validation_status/Valid> ;
|
|
1141
|
+
prop:Mutation_Status <code/mutation_status/Somatic> ;
|
|
1142
|
+
prop:Sequence_Source <code/sequence_source/WXS> ;
|
|
1143
|
+
prop:Sequencer <code/sequencer/Illumina_GAIIx> ;
|
|
1144
|
+
prop:Hugo_Symbol <http://identifiers.org/hgnc.symbol/A2BP1> ;
|
|
1145
|
+
prop:Entrez_Gene_Id <http://identifiers.org/ncbigene/54715> ;
|
|
1146
|
+
prop:Center "genome.wustl.edu" ;
|
|
1147
|
+
prop:NCBI_Build 37 ;
|
|
1148
|
+
prop:Chromosome 16 ;
|
|
1149
|
+
prop:Start_Position 7102099 ;
|
|
1150
|
+
prop:End_Position 7102099 ;
|
|
1151
|
+
prop:Strand "+" ;
|
|
1152
|
+
prop:Reference_Allele "G" ;
|
|
1153
|
+
prop:Tumor_Seq_Allele1 "G" ;
|
|
1154
|
+
prop:Tumor_Seq_Allele2 "T" ;
|
|
1155
|
+
prop:dbSNP_RS "novel" ;
|
|
1156
|
+
prop:Tumor_Sample_Barcode "TCGA-E2-A1BC-01A-11D-A14G-09" ;
|
|
1157
|
+
prop:Matched_Norm_Sample_Barcode "TCGA-E2-A1BC-10A-01D-A12Q-09" ;
|
|
1158
|
+
prop:Match_Norm_Seq_Allele1 "G" ;
|
|
1159
|
+
prop:Match_Norm_Seq_Allele2 "G" ;
|
|
1160
|
+
prop:Tumor_Validation_Allele1 "G" ;
|
|
1161
|
+
prop:Tumor_Validation_Allele2 "T" ;
|
|
1162
|
+
prop:Match_Norm_Validation_Allele1 "G" ;
|
|
1163
|
+
prop:Match_Norm_Validation_Allele2 "G" ;
|
|
1164
|
+
prop:Sequencing_Phase "Phase_IV" ;
|
|
1165
|
+
prop:Validation_Method "Illumina_WXS_gDNA" ;
|
|
1166
|
+
prop:Score 1 ;
|
|
1167
|
+
prop:BAM_File "dbGAP" ;
|
|
1168
|
+
prop:Tumor_Sample_UUID "5947a9db-7d13-44ff-86ad-eb5e6c8dcec5" ;
|
|
1169
|
+
prop:Matched_Norm_Sample_UUID "6a4cd52f-2247-4caf-9b37-e90b02fd4d8b" ;
|
|
1170
|
+
prop:patient_id "E2-A1BC" ;
|
|
1171
|
+
prop:sample_id "01A-11D-A14G-09" ;
|
|
1172
|
+
.
|
|
1173
|
+
|