pheval 0.1.0__py3-none-any.whl → 0.2.0__py3-none-any.whl
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- pheval/__init__.py +0 -5
- pheval/analyse/__init__.py +0 -0
- pheval/analyse/analysis.py +703 -0
- pheval/analyse/generate_plots.py +312 -0
- pheval/analyse/generate_summary_outputs.py +186 -0
- pheval/analyse/rank_stats.py +61 -0
- pheval/cli.py +22 -7
- pheval/cli_pheval.py +37 -12
- pheval/cli_pheval_utils.py +225 -8
- pheval/config_parser.py +36 -0
- pheval/constants.py +1 -0
- pheval/implementations/__init__.py +1 -3
- pheval/post_processing/__init__.py +0 -0
- pheval/post_processing/post_processing.py +210 -0
- pheval/prepare/__init__.py +0 -0
- pheval/prepare/create_noisy_phenopackets.py +173 -0
- pheval/prepare/create_spiked_vcf.py +366 -0
- pheval/prepare/custom_exceptions.py +47 -0
- pheval/prepare/update_phenopacket.py +53 -0
- pheval/resources/alternate_ouputs/CADA_results.txt +11 -0
- pheval/resources/alternate_ouputs/DeepPVP_results.txt +22 -0
- pheval/resources/alternate_ouputs/OVA_results.txt +11 -0
- pheval/resources/alternate_ouputs/Phen2Gene_results.json +814 -0
- pheval/resources/alternate_ouputs/Phenolyzer_results.txt +12 -0
- pheval/resources/alternate_ouputs/lirical_results.tsv +152 -0
- pheval/resources/alternate_ouputs/svanna_results.tsv +9 -0
- pheval/resources/hgnc_complete_set_2022-10-01.txt +43222 -0
- pheval/run_metadata.py +27 -0
- pheval/runners/runner.py +92 -11
- pheval/utils/__init__.py +0 -0
- pheval/utils/docs_gen.py +105 -0
- pheval/utils/docs_gen.sh +18 -0
- pheval/utils/file_utils.py +88 -0
- pheval/utils/phenopacket_utils.py +356 -0
- pheval/utils/semsim_utils.py +156 -0
- {pheval-0.1.0.dist-info → pheval-0.2.0.dist-info}/METADATA +12 -4
- pheval-0.2.0.dist-info/RECORD +41 -0
- {pheval-0.1.0.dist-info → pheval-0.2.0.dist-info}/WHEEL +1 -1
- pheval/utils.py +0 -7
- pheval-0.1.0.dist-info/RECORD +0 -13
- {pheval-0.1.0.dist-info → pheval-0.2.0.dist-info}/LICENSE +0 -0
- {pheval-0.1.0.dist-info → pheval-0.2.0.dist-info}/entry_points.txt +0 -0
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contig start end id vtype failed_filters psv
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17 31150798 31157725 Hsiao-2015-26189818-NF1-UAB_1-FigS1 DEL 124.97852180540217
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17 43100079 43110335 Musani-2017-29310340-BRCA1-proband-FigS2 DEL 5.731265530741487
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2 109923337 110405062 Koyama-2017-28347285-NPHP1-II_2-FigS3 DEL 4.426802033585173
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X 64205190 64206761 Mi-2020-33265914-AMER1-Proband_B-FigS6 DEL 3.6926304444154807
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3 9725702 9737931 Mizuguchi-2020-33157260-BRPF1-II_1-FigS5 INV 2.600504464629789
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3 11007012 11007013 Pesz-2018-29621621-SLC6A1-proband-FigS8 BND 2.155736527404235
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13 72835296 72835332 Hebbar-2018-29695797-PIBF1-proband-FigS4 DUP 1.3833777539105
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12 6124705 6124718 Othman-2010-20696945-VWF-index-FigS7 DEL 0.7608952519440781
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