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- data/bin/ngs_server +72 -50
- data/ext/bamtools/extconf.rb +3 -3
- data/ext/vcftools/Makefile +28 -0
- data/ext/vcftools/README.txt +36 -0
- data/ext/vcftools/cpp/.svn/all-wcprops +125 -0
- data/ext/vcftools/cpp/.svn/dir-prop-base +6 -0
- data/ext/vcftools/cpp/.svn/entries +708 -0
- data/ext/vcftools/cpp/.svn/text-base/Makefile.svn-base +46 -0
- data/ext/vcftools/cpp/.svn/text-base/dgeev.cpp.svn-base +146 -0
- data/ext/vcftools/cpp/.svn/text-base/dgeev.h.svn-base +43 -0
- data/ext/vcftools/cpp/.svn/text-base/output_log.cpp.svn-base +79 -0
- data/ext/vcftools/cpp/.svn/text-base/output_log.h.svn-base +34 -0
- data/ext/vcftools/cpp/.svn/text-base/parameters.cpp.svn-base +535 -0
- data/ext/vcftools/cpp/.svn/text-base/parameters.h.svn-base +154 -0
- data/ext/vcftools/cpp/.svn/text-base/vcf_entry.cpp.svn-base +497 -0
- data/ext/vcftools/cpp/.svn/text-base/vcf_entry.h.svn-base +190 -0
- data/ext/vcftools/cpp/.svn/text-base/vcf_entry_getters.cpp.svn-base +421 -0
- data/ext/vcftools/cpp/.svn/text-base/vcf_entry_setters.cpp.svn-base +482 -0
- data/ext/vcftools/cpp/.svn/text-base/vcf_file.cpp.svn-base +495 -0
- data/ext/vcftools/cpp/.svn/text-base/vcf_file.h.svn-base +184 -0
- data/ext/vcftools/cpp/.svn/text-base/vcf_file_diff.cpp.svn-base +1282 -0
- data/ext/vcftools/cpp/.svn/text-base/vcf_file_filters.cpp.svn-base +1215 -0
- data/ext/vcftools/cpp/.svn/text-base/vcf_file_format_convert.cpp.svn-base +1138 -0
- data/ext/vcftools/cpp/.svn/text-base/vcf_file_index.cpp.svn-base +171 -0
- data/ext/vcftools/cpp/.svn/text-base/vcf_file_output.cpp.svn-base +3012 -0
- data/ext/vcftools/cpp/.svn/text-base/vcftools.cpp.svn-base +107 -0
- data/ext/vcftools/cpp/.svn/text-base/vcftools.h.svn-base +25 -0
- data/ext/vcftools/cpp/Makefile +46 -0
- data/ext/vcftools/cpp/dgeev.cpp +146 -0
- data/ext/vcftools/cpp/dgeev.h +43 -0
- data/ext/vcftools/cpp/output_log.cpp +79 -0
- data/ext/vcftools/cpp/output_log.h +34 -0
- data/ext/vcftools/cpp/parameters.cpp +535 -0
- data/ext/vcftools/cpp/parameters.h +154 -0
- data/ext/vcftools/cpp/vcf_entry.cpp +497 -0
- data/ext/vcftools/cpp/vcf_entry.h +190 -0
- data/ext/vcftools/cpp/vcf_entry_getters.cpp +421 -0
- data/ext/vcftools/cpp/vcf_entry_setters.cpp +482 -0
- data/ext/vcftools/cpp/vcf_file.cpp +495 -0
- data/ext/vcftools/cpp/vcf_file.h +184 -0
- data/ext/vcftools/cpp/vcf_file_diff.cpp +1282 -0
- data/ext/vcftools/cpp/vcf_file_filters.cpp +1215 -0
- data/ext/vcftools/cpp/vcf_file_format_convert.cpp +1138 -0
- data/ext/vcftools/cpp/vcf_file_index.cpp +171 -0
- data/ext/vcftools/cpp/vcf_file_output.cpp +3012 -0
- data/ext/vcftools/cpp/vcftools.cpp +107 -0
- data/ext/vcftools/cpp/vcftools.h +25 -0
- data/ext/vcftools/examples/.svn/all-wcprops +185 -0
- data/ext/vcftools/examples/.svn/dir-prop-base +6 -0
- data/ext/vcftools/examples/.svn/entries +1048 -0
- data/ext/vcftools/examples/.svn/prop-base/perl-api-1.pl.svn-base +5 -0
- data/ext/vcftools/examples/.svn/text-base/annotate-test.vcf.svn-base +37 -0
- data/ext/vcftools/examples/.svn/text-base/annotate.out.svn-base +23 -0
- data/ext/vcftools/examples/.svn/text-base/annotate.txt.svn-base +7 -0
- data/ext/vcftools/examples/.svn/text-base/annotate2.out.svn-base +52 -0
- data/ext/vcftools/examples/.svn/text-base/annotate3.out.svn-base +23 -0
- data/ext/vcftools/examples/.svn/text-base/cmp-test-a-3.3.vcf.svn-base +12 -0
- data/ext/vcftools/examples/.svn/text-base/cmp-test-a.vcf.svn-base +12 -0
- data/ext/vcftools/examples/.svn/text-base/cmp-test-b-3.3.vcf.svn-base +12 -0
- data/ext/vcftools/examples/.svn/text-base/cmp-test-b.vcf.svn-base +12 -0
- data/ext/vcftools/examples/.svn/text-base/cmp-test.out.svn-base +53 -0
- data/ext/vcftools/examples/.svn/text-base/concat-a.vcf.svn-base +21 -0
- data/ext/vcftools/examples/.svn/text-base/concat-b.vcf.svn-base +13 -0
- data/ext/vcftools/examples/.svn/text-base/concat-c.vcf.svn-base +19 -0
- data/ext/vcftools/examples/.svn/text-base/concat.out.svn-base +39 -0
- data/ext/vcftools/examples/.svn/text-base/invalid-4.0.vcf.svn-base +31 -0
- data/ext/vcftools/examples/.svn/text-base/isec-n2-test.vcf.out.svn-base +19 -0
- data/ext/vcftools/examples/.svn/text-base/merge-test-a.vcf.svn-base +17 -0
- data/ext/vcftools/examples/.svn/text-base/merge-test-b.vcf.svn-base +17 -0
- data/ext/vcftools/examples/.svn/text-base/merge-test-c.vcf.svn-base +15 -0
- data/ext/vcftools/examples/.svn/text-base/merge-test.vcf.out.svn-base +31 -0
- data/ext/vcftools/examples/.svn/text-base/perl-api-1.pl.svn-base +46 -0
- data/ext/vcftools/examples/.svn/text-base/query-test.out.svn-base +6 -0
- data/ext/vcftools/examples/.svn/text-base/shuffle-test.vcf.svn-base +12 -0
- data/ext/vcftools/examples/.svn/text-base/subset.SNPs.out.svn-base +10 -0
- data/ext/vcftools/examples/.svn/text-base/subset.indels.out.svn-base +18 -0
- data/ext/vcftools/examples/.svn/text-base/subset.vcf.svn-base +21 -0
- data/ext/vcftools/examples/.svn/text-base/valid-3.3.vcf.svn-base +30 -0
- data/ext/vcftools/examples/.svn/text-base/valid-4.0.vcf.stats.svn-base +104 -0
- data/ext/vcftools/examples/.svn/text-base/valid-4.0.vcf.svn-base +34 -0
- data/ext/vcftools/examples/.svn/text-base/valid-4.1.vcf.svn-base +37 -0
- data/ext/vcftools/examples/annotate-test.vcf +37 -0
- data/ext/vcftools/examples/annotate.out +23 -0
- data/ext/vcftools/examples/annotate.txt +7 -0
- data/ext/vcftools/examples/annotate2.out +52 -0
- data/ext/vcftools/examples/annotate3.out +23 -0
- data/ext/vcftools/examples/cmp-test-a-3.3.vcf +12 -0
- data/ext/vcftools/examples/cmp-test-a.vcf +12 -0
- data/ext/vcftools/examples/cmp-test-b-3.3.vcf +12 -0
- data/ext/vcftools/examples/cmp-test-b.vcf +12 -0
- data/ext/vcftools/examples/cmp-test.out +53 -0
- data/ext/vcftools/examples/concat-a.vcf +21 -0
- data/ext/vcftools/examples/concat-b.vcf +13 -0
- data/ext/vcftools/examples/concat-c.vcf +19 -0
- data/ext/vcftools/examples/concat.out +39 -0
- data/ext/vcftools/examples/invalid-4.0.vcf +31 -0
- data/ext/vcftools/examples/isec-n2-test.vcf.out +19 -0
- data/ext/vcftools/examples/merge-test-a.vcf +17 -0
- data/ext/vcftools/examples/merge-test-b.vcf +17 -0
- data/ext/vcftools/examples/merge-test-c.vcf +15 -0
- data/ext/vcftools/examples/merge-test.vcf.out +31 -0
- data/ext/vcftools/examples/perl-api-1.pl +46 -0
- data/ext/vcftools/examples/query-test.out +6 -0
- data/ext/vcftools/examples/shuffle-test.vcf +12 -0
- data/ext/vcftools/examples/subset.SNPs.out +10 -0
- data/ext/vcftools/examples/subset.indels.out +18 -0
- data/ext/vcftools/examples/subset.vcf +21 -0
- data/ext/vcftools/examples/valid-3.3.vcf +30 -0
- data/ext/vcftools/examples/valid-4.0.vcf +34 -0
- data/ext/vcftools/examples/valid-4.0.vcf.stats +104 -0
- data/ext/vcftools/examples/valid-4.1.vcf +37 -0
- data/ext/vcftools/extconf.rb +2 -0
- data/ext/vcftools/perl/.svn/all-wcprops +149 -0
- data/ext/vcftools/perl/.svn/entries +844 -0
- data/ext/vcftools/perl/.svn/prop-base/fill-aa.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/fill-an-ac.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/fill-ref-md5.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/tab-to-vcf.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/test.t.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/vcf-annotate.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/vcf-compare.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/vcf-concat.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/vcf-convert.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/vcf-fix-newlines.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/vcf-isec.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/vcf-merge.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/vcf-query.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/vcf-shuffle-cols.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/vcf-sort.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/vcf-stats.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/vcf-subset.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/vcf-to-tab.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/vcf-validator.svn-base +5 -0
- data/ext/vcftools/perl/.svn/text-base/ChangeLog.svn-base +84 -0
- data/ext/vcftools/perl/.svn/text-base/FaSlice.pm.svn-base +214 -0
- data/ext/vcftools/perl/.svn/text-base/Makefile.svn-base +12 -0
- data/ext/vcftools/perl/.svn/text-base/Vcf.pm.svn-base +2853 -0
- data/ext/vcftools/perl/.svn/text-base/VcfStats.pm.svn-base +681 -0
- data/ext/vcftools/perl/.svn/text-base/fill-aa.svn-base +103 -0
- data/ext/vcftools/perl/.svn/text-base/fill-an-ac.svn-base +56 -0
- data/ext/vcftools/perl/.svn/text-base/fill-ref-md5.svn-base +204 -0
- data/ext/vcftools/perl/.svn/text-base/tab-to-vcf.svn-base +92 -0
- data/ext/vcftools/perl/.svn/text-base/test.t.svn-base +376 -0
- data/ext/vcftools/perl/.svn/text-base/vcf-annotate.svn-base +1099 -0
- data/ext/vcftools/perl/.svn/text-base/vcf-compare.svn-base +1193 -0
- data/ext/vcftools/perl/.svn/text-base/vcf-concat.svn-base +310 -0
- data/ext/vcftools/perl/.svn/text-base/vcf-convert.svn-base +180 -0
- data/ext/vcftools/perl/.svn/text-base/vcf-fix-newlines.svn-base +97 -0
- data/ext/vcftools/perl/.svn/text-base/vcf-isec.svn-base +660 -0
- data/ext/vcftools/perl/.svn/text-base/vcf-merge.svn-base +577 -0
- data/ext/vcftools/perl/.svn/text-base/vcf-query.svn-base +272 -0
- data/ext/vcftools/perl/.svn/text-base/vcf-shuffle-cols.svn-base +89 -0
- data/ext/vcftools/perl/.svn/text-base/vcf-sort.svn-base +79 -0
- data/ext/vcftools/perl/.svn/text-base/vcf-stats.svn-base +160 -0
- data/ext/vcftools/perl/.svn/text-base/vcf-subset.svn-base +206 -0
- data/ext/vcftools/perl/.svn/text-base/vcf-to-tab.svn-base +112 -0
- data/ext/vcftools/perl/.svn/text-base/vcf-validator.svn-base +145 -0
- data/ext/vcftools/perl/ChangeLog +84 -0
- data/ext/vcftools/perl/FaSlice.pm +214 -0
- data/ext/vcftools/perl/Makefile +12 -0
- data/ext/vcftools/perl/Vcf.pm +2853 -0
- data/ext/vcftools/perl/VcfStats.pm +681 -0
- data/ext/vcftools/perl/fill-aa +103 -0
- data/ext/vcftools/perl/fill-an-ac +56 -0
- data/ext/vcftools/perl/fill-ref-md5 +204 -0
- data/ext/vcftools/perl/tab-to-vcf +92 -0
- data/ext/vcftools/perl/test.t +376 -0
- data/ext/vcftools/perl/vcf-annotate +1099 -0
- data/ext/vcftools/perl/vcf-compare +1193 -0
- data/ext/vcftools/perl/vcf-concat +310 -0
- data/ext/vcftools/perl/vcf-convert +180 -0
- data/ext/vcftools/perl/vcf-fix-newlines +97 -0
- data/ext/vcftools/perl/vcf-isec +660 -0
- data/ext/vcftools/perl/vcf-merge +577 -0
- data/ext/vcftools/perl/vcf-query +286 -0
- data/ext/vcftools/perl/vcf-shuffle-cols +89 -0
- data/ext/vcftools/perl/vcf-sort +79 -0
- data/ext/vcftools/perl/vcf-stats +160 -0
- data/ext/vcftools/perl/vcf-subset +206 -0
- data/ext/vcftools/perl/vcf-to-tab +112 -0
- data/ext/vcftools/perl/vcf-validator +145 -0
- data/ext/vcftools/website/.svn/all-wcprops +41 -0
- data/ext/vcftools/website/.svn/entries +238 -0
- data/ext/vcftools/website/.svn/prop-base/VCF-poster.pdf.svn-base +5 -0
- data/ext/vcftools/website/.svn/prop-base/favicon.ico.svn-base +5 -0
- data/ext/vcftools/website/.svn/prop-base/favicon.png.svn-base +5 -0
- data/ext/vcftools/website/.svn/text-base/Makefile.svn-base +6 -0
- data/ext/vcftools/website/.svn/text-base/README.svn-base +2 -0
- data/ext/vcftools/website/.svn/text-base/VCF-poster.pdf.svn-base +0 -0
- data/ext/vcftools/website/.svn/text-base/default.css.svn-base +250 -0
- data/ext/vcftools/website/.svn/text-base/favicon.ico.svn-base +0 -0
- data/ext/vcftools/website/.svn/text-base/favicon.png.svn-base +0 -0
- data/ext/vcftools/website/Makefile +6 -0
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- data/ext/vcftools/website/img/.svn/all-wcprops +53 -0
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- data/lib/config.ru +9 -0
- data/lib/ngs_server/add.rb +9 -0
- data/lib/ngs_server/version.rb +1 -1
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- metadata +296 -6
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<div class="item">
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<h1>The Perl modules and scripts</h1>
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<p>VCFtools contains a Perl API (<a href="#Vcf.pm">Vcf.pm</a>) and a number
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of Perl scripts that can be used to perform common tasks with VCF files such as
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file validation, file merging, intersecting, complements, etc. The Perl tools
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support all versions of the VCF specification (3.2, 3.3, 4.0 and 4.1),
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nevertheless, the users are encouraged to use the latest versions VCFv4.0 or VCFv4.1.
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The VCFtools in general have been used mainly with diploid data, but the Perl tools
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aim to support polyploid data as well.
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Run any of the Perl scripts with the --help switch to obtain more help.
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Note that the <b><span class="cmd">PERL5LIB</span> environment variable must contain
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the path to your VCFtools installation</b> in order for the scripts to work.
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<p class="codebox">export PERL5LIB=/path/to/your/installation</p>
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<p>
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Many of the <b>Perl scripts require that the VCF files are compressed by <span class="cmd">bgzip</span>
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and indexed by <span class="cmd">tabix</span></b> (both tools are part of the tabix package,
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available for <a href="https://sourceforge.net/projects/samtools/files/tabix/">download here</a>).
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<p class="codebox">bgzip my_file.vcf<br>
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tabix -p vcf my_file.vcf.gz
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<h3>The tools</h3>
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<ul class="faq">
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<li> <a href="#fill-aa">fill-aa</a>
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<li> <a href="#fill-an-ac">fill-an-ac</a>
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<li> <a href="#vcf-annotate">vcf-annotate</a>
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<li> <a href="#vcf-compare">vcf-compare</a>
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<li> <a href="#vcf-concat">vcf-concat</a>
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<li> <a href="#vcf-convert">vcf-convert</a>
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<li> <a href="#vcf-isec">vcf-isec</a>
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<li> <a href="#vcf-merge">vcf-merge</a>
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<li> <a href="#vcf-query">vcf-query</a>
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<li> <a href="#vcf-shuffle-cols">vcf-shuffle-cols</a>
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<li> <a href="#vcf-sort">vcf-sort</a>
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<li> <a href="#vcf-stats">vcf-stats</a>
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<li> <a href="#vcf-subset">vcf-subset</a>
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<li> <a href="#vcf-to-tab">vcf-to-tab</a>
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<li> <a href="#vcf-validator">vcf-validator</a>
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<li> <a href="#Vcf.pm">Vcf.pm</a>
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</ul>
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</div>
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<div class="item">
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<a name="fill-aa" class="Q">fill-aa</a>
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<p> Fill in ancestral alleles.
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</p>
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<p class="codebox">zcat file.vcf.gz | fill-aa -a ancestral-alleles.fa.gz | bgzip -c > out.vcf.gz</p>
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<a name="fill-an-ac" class="Q">fill-an-ac</a>
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<p> Fill or recalculate AN and AC INFO fields.
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</p>
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<p class="codebox">zcat file.vcf.gz | fill-an-ac | bgzip -c > out.vcf.gz</p>
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</div>
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<a name="fill-ref-md5" class="Q">fill-ref-md5</a>
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<p>Fill missing reference info and sequence MD5s into VCF header.
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</p>
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<p class="codebox">fill-ref-md5 -i "SP:Homo\ Sapiens" -r ref.fasta in.vcf.gz -d ref.dict out.vcf.gz</p>
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</div>
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<a name="fill-rsIDs" class="Q">fill-rsIDs</a>
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<p>Fill missing rsIDs. This script has been discontinued, please use <a href="#vcf-annotate">vcf-annotate</a> instead.
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</p>
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</div>
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<div class="item">
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<a name="vcf-annotate" class="Q">vcf-annotate</a>
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<p> Annotates VCF files with filtering information, IDs or custom annotations.
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To add custom annotations to VCF files, create TAB delimited file with annotations
|
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such as
|
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<p class="codebox" style="white-space:pre;font-family:monospace;">#CHR FROM TO ANNOTATION
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1 12345 22345 gene1
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1 67890 77890 gene2
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</p>
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<p>
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Compress the file (using <span class="cmd">bgzip annotations</span>), index (using <span class="cmd">tabix -s 1 -b 2 -e 3 annotations.gz</span>) and
|
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run
|
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</p>
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<p class="codebox">cat in.vcf | vcf-annotate -a annotations.gz \ <br>
|
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-d key=INFO,ID=ANN,Number=1,Type=Integer,Description='My custom annotation' \ <br>
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-c CHROM,FROM,TO,INFO/ANN > out.vcf </p>
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<p style='padding-bottom:0px'>The script is also routinely used to apply filters. There are a number of predefined filters and
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custom filters can be easily added, see <span class="cmd">vcf-annotate -h</span> for examples.
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Some of the predefined filters take advantage of tags added by bcftools, the descriptions of the most frequently asked
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ones follow:</p>
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<div style='margin-left:1em;margin-top:0.2em;'>
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<b>Strand Bias</b>
|
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.. Tests if variant bases tend to come from one strand. Fisher's exact test
|
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for 2x2 contingency table where the row variable is being the reference allele
|
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or not and the column variable is strand. Two-tail P-value is used.
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</div>
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<div style='margin-left:1em;margin-top:0.2em;'>
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<b>End Distance Bias</b>
|
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.. Tests if variant bases tend to occur
|
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towards the end of reads, which is usually an indication of
|
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misalignment. (T-test)
|
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</div>
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<div style='margin-left:1em;margin-top:0.2em;'>
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<b>Base Quality Bias</b>
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.. Tests if variant bases tend to occur with a quality bias (T-test). This filter is by default
|
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effectively disabled as it is set to 0.
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</div>
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</div>
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|
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<div class="item">
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<a name="vcf-compare" class="Q">vcf-compare</a>
|
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<p> Compares positions in two or more VCF files and outputs the numbers of
|
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positions contained in one but not the other files; two but not the other files, etc, which
|
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comes handy when generating Venn diagrams. The script also computes numbers
|
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such as nonreference discordance rates (including multiallelic sites), compares
|
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actual sequence (useful when comparing indels), etc.
|
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<br>
|
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</p>
|
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<p class="codebox">vcf-compare -H A.vcf.gz B.vcf.gz C.vcf.gz</p>
|
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</div>
|
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|
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|
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|
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|
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<div class="item">
|
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<a name="vcf-concat" class="Q">vcf-concat</a>
|
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<p>Very simple script for concatenating multiple VCF files into one. Checks that the count and
|
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column names match.
|
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</p>
|
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<p class="codebox">vcf-concat A.vcf.gz B.vcf.gz C.vcf.gz | gzip -c > out.vcf.gz</p>
|
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</div>
|
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+
|
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+
|
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+
|
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<div class="item">
|
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<a name="vcf-convert" class="Q">vcf-convert</a>
|
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|
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<p>Convert between VCF versions, currently from VCFv3.3 to VCFv4.0.
|
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|
+
</p>
|
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|
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<p class="codebox">zcat file.vcf.gz | vcf-convert -r reference.fa > out.vcf</p>
|
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+
</div>
|
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+
|
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+
|
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<div class="item">
|
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<a name="vcf-isec" class="Q">vcf-isec</a>
|
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|
+
<p> Creates intersections and complements of two or more VCF files. Given multiple
|
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|
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VCF files, it can output the list of positions which are shared by at least N files,
|
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|
+
at most N files, exactly N files, etc. The first example below outputs positions shared by
|
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|
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at least two files and the second outputs positions present in the files A but absent
|
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+
from files B and C.
|
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+
</p>
|
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|
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<p class="codebox">
|
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|
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vcf-isec -n +2 A.vcf.gz B.vcf.gz | bgzip -c > out.vcf.gz <br>
|
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|
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vcf-isec -c A.vcf.gz B.vcf.gz C.vcf.gz | bgzip -c > out.vcf.gz
|
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|
+
</p>
|
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|
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</div>
|
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+
|
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|
+
|
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+
<div class="item">
|
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|
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<a name="vcf-merge" class="Q">vcf-merge</a>
|
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|
+
<p> Merges two or more VCF files into one so that, for example, if two source files
|
174
|
+
had one column each, on output will be printed a file with two columns.
|
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|
+
</p>
|
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|
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<p class="codebox">vcf-merge A.vcf.gz B.vcf.gz C.vcf.gz | bgzip -c > out.vcf.gz</p>
|
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|
+
<p>Note that this script is not intended for concatenating VCF files. For this, use
|
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|
+
<a href="perl_module.html#vcf-concat">vcf-concat</a> instead.
|
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|
+
</p>
|
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|
+
</div>
|
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|
+
|
182
|
+
|
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|
+
<div class="item">
|
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|
+
<a name="vcf-query" class="Q">vcf-query</a>
|
185
|
+
<p> Powerful tool for converting VCF files into user-definable formats.
|
186
|
+
Supports retrieval of subsets of positions, columns and fields.
|
187
|
+
</p>
|
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|
+
<p class="codebox">vcf-query file.vcf.gz 1:10327-10330</p>
|
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|
+
</div>
|
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|
+
|
191
|
+
|
192
|
+
|
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|
+
<div class="item">
|
194
|
+
<a name="shuffle" class="Q">vcf-shuffle-cols</a>
|
195
|
+
<p>Reorder columns</p>
|
196
|
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<p class="codebox"><a href="perl_module.html#vcf-shuffle-cols">vcf-shuffle-cols</a> -t template.vcf.gz file.vcf.gz > out.vcf
|
197
|
+
</p>
|
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|
+
</div>
|
199
|
+
|
200
|
+
|
201
|
+
<div class="item">
|
202
|
+
<a name="vcf-sort" class="Q">vcf-sort</a>
|
203
|
+
<p>Sort a VCF file.
|
204
|
+
</p>
|
205
|
+
<p class="codebox">vcf-sort file.vcf.gz</p>
|
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|
+
</div>
|
207
|
+
|
208
|
+
|
209
|
+
<div class="item">
|
210
|
+
<a name="vcf-stats" class="Q">vcf-stats</a>
|
211
|
+
<p>Outputs some basic statistics: the number of SNPs, indels, etc.
|
212
|
+
</p>
|
213
|
+
<p class="codebox">vcf-stats file.vcf.gz</p>
|
214
|
+
</div>
|
215
|
+
|
216
|
+
|
217
|
+
<div class="item">
|
218
|
+
<a name="vcf-subset" class="Q">vcf-subset</a>
|
219
|
+
<p>Remove some columns from the VCF file.
|
220
|
+
</p>
|
221
|
+
<p class="codebox">vcf-subset -c NA0001,NA0002 file.vcf.gz | bgzip -c > out.vcf.gz</p>
|
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|
+
</div>
|
223
|
+
|
224
|
+
|
225
|
+
<div class="item">
|
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|
+
<a name="vcf-to-tab" class="Q">vcf-to-tab</a>
|
227
|
+
<p>A simple script which converts the VCF file into a tab-delimited text file listing the
|
228
|
+
actual variants instead of ALT indexes.
|
229
|
+
</p>
|
230
|
+
<p class="codebox">zcat file.vcf.gz | vcf-to-tab > out.tab</p>
|
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|
+
</div>
|
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|
+
|
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|
+
|
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|
+
<div class="item">
|
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|
+
<a name="vcf-validator" class="Q">vcf-validator</a>
|
236
|
+
<p>
|
237
|
+
</p>
|
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|
+
<p class="codebox">vcf-validator file.vcf.gz</p>
|
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|
+
</div>
|
240
|
+
|
241
|
+
|
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|
+
<div class="item">
|
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|
+
<a name="Vcf.pm" class="Q">Vcf.pm</a>
|
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|
+
<p>For examples how to use the Perl API, it is best to look at some of the simpler scripts,
|
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|
+
for example <span class="cmd">vcf-to-tab</span>. The detailed documentation can be obtained by running</p>
|
246
|
+
<p class="codebox">perldoc Vcf.pm</p>
|
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|
+
</div>
|
248
|
+
|
249
|
+
|
@@ -0,0 +1,18 @@
|
|
1
|
+
|
2
|
+
<div class="item">
|
3
|
+
<h1>VCF (Variant Call Format) specification</h1>
|
4
|
+
<ul>
|
5
|
+
<li><a href="http://www.1000genomes.org/wiki/Analysis/Variant%20Call%20Format/vcf-variant-call-format-version-40">VCF format v4.0</a></li>
|
6
|
+
<li><a href="http://www.1000genomes.org/wiki/Analysis/Variant%20Call%20Format/VCF%20%28Variant%20Call%20Format%29%20version%204.0/encoding-structural-variants">VCF and structural variants</a></li>
|
7
|
+
<li><a href="http://www.1000genomes.org/wiki/Analysis/Variant%20Call%20Format/vcf-variant-call-format-version-41">VCF format v4.1</a></li>
|
8
|
+
</ul>
|
9
|
+
<br>
|
10
|
+
<ul>
|
11
|
+
<li><a href="VCF-poster.pdf">VCF poster</a></li>
|
12
|
+
<li><A href="https://lists.sourceforge.net/lists/listinfo/vcftools-spec">VCFtools-spec</a> - Low traffic mailing list intended for VCF format related
|
13
|
+
discussions, such as clarifications of the current format version or
|
14
|
+
proposals of changes to the specification.
|
15
|
+
</li>
|
16
|
+
</ul>
|
17
|
+
</div>
|
18
|
+
|
@@ -0,0 +1,202 @@
|
|
1
|
+
|
2
|
+
<div class="item">
|
3
|
+
|
4
|
+
<h3>Documentation</h3>
|
5
|
+
<p>
|
6
|
+
The VCFtools package is broadly split into two sections: <br>
|
7
|
+
<ul class="faq">
|
8
|
+
<li> The <span class="cmd">vcftools</span> binary program, generally used to analyse VCF files.
|
9
|
+
<li> The <span class="cmd">Vcf.pm</span> perl module, which is a general Perl API containing a core of
|
10
|
+
the utilities <span class="cmd">vcf-convert</span>, <span class="cmd">vcf-merge</span>,
|
11
|
+
<span class="cmd">vcf-compare</span>, <span class="cmd">vcf-isec</span>, and others.
|
12
|
+
</ui>
|
13
|
+
</p>
|
14
|
+
|
15
|
+
<h3>Documentation</h3>
|
16
|
+
<ul class="faq">
|
17
|
+
<li> <a href="options.html">Documentation for the binary executable <span class="cmd">vcftools</span></a>
|
18
|
+
<li> <a href="perl_module.html">The Perl API and scripts</a>
|
19
|
+
<li> <a href="#one-liners">Useful shell one-liners</a>
|
20
|
+
</ul>
|
21
|
+
|
22
|
+
<h3>Examples of usage by topic</h3>
|
23
|
+
<ul class="faq">
|
24
|
+
<li> <a href="#install">Installation</a>
|
25
|
+
<li> <a href="#annotate">Annotating</a>
|
26
|
+
<li> <a href="#compare">Comparing</a>
|
27
|
+
<li> <a href="#concat">Concatenating</a>
|
28
|
+
<li> <a href="#convert">Converting</a>
|
29
|
+
<li> <a href="#isec">Intersections, complements</a>
|
30
|
+
<li> <a href="#merge">Merging</a>
|
31
|
+
<li> <a href="#query">Querying</a>
|
32
|
+
<li> <a href="#shuffle">Reordering columns</a>
|
33
|
+
<li> <a href="#stats">Stats</a>
|
34
|
+
<li> <a href="#subset">Stripping columns</a>
|
35
|
+
<li> <a href="#one-liners">Useful shell one-liners</a>
|
36
|
+
<li> <a href="#validator">Validating</a>
|
37
|
+
<li> <a href="#more">...and more</a>
|
38
|
+
</ul>
|
39
|
+
</div>
|
40
|
+
|
41
|
+
|
42
|
+
<div class="item">
|
43
|
+
<a name="install" class="Q">Installation</a>
|
44
|
+
<p> The VCFtools package can be decompressed by the command
|
45
|
+
<p class="codebox">tar -xzf vcftools_<i>version_number</i>_source.tar.gz</p>
|
46
|
+
<p> To build the <span class="cmd">vcftools</span> executable, type "make" in the vcftools folder. </p>
|
47
|
+
<p>
|
48
|
+
The <b>Perl scripts require that VCF files are compressed by <span class="cmd">bgzip</span>
|
49
|
+
and indexed by <span class="cmd">tabix</span></b> (both tools are part of the tabix package,
|
50
|
+
available for <a href="https://sourceforge.net/projects/samtools/files/tabix/">download here</a>).
|
51
|
+
Test the tools can be tested by running the script
|
52
|
+
<p class="codebox">/path/to/your/installation/perl/test.t</p>
|
53
|
+
For running the Perl scripts, the <b>PERL5LIB environment variable must be set</b> to include the Vcf.pm
|
54
|
+
module</p>
|
55
|
+
<p class="codebox">export PERL5LIB=/path/to/your/installation/perl</p>
|
56
|
+
</div>
|
57
|
+
|
58
|
+
|
59
|
+
<div class="item">
|
60
|
+
<a name="annotate" class="Q">Annotating</a>
|
61
|
+
<p></p>
|
62
|
+
<p class="codebox">
|
63
|
+
# Add custom annotations <br>
|
64
|
+
cat in.vcf | vcf-annotate -a annotations.gz \ <br>
|
65
|
+
-d key=INFO,ID=ANN,Number=1,Type=Integer,Description='My custom annotation' \ <br>
|
66
|
+
-c CHROM,FROM,TO,INFO/ANN > out.vcf <br>
|
67
|
+
<br>
|
68
|
+
# Apply SnpCluster filter <br>
|
69
|
+
cat in.vcf | <a href="perl_module.html#vcf-annotate">vcf-annotate</a> --filter SnpCluster=3,10 > out.vcf <br>
|
70
|
+
</p>
|
71
|
+
</div>
|
72
|
+
|
73
|
+
|
74
|
+
|
75
|
+
<div class="item">
|
76
|
+
<a name="compare" class="Q">Comparing</a>
|
77
|
+
<p></p>
|
78
|
+
<p class="codebox"><a href="perl_module.html#vcf-compare">vcf-compare</a> A.vcf.gz B.vcf.gz C.vcf.gz
|
79
|
+
</p>
|
80
|
+
</div>
|
81
|
+
|
82
|
+
|
83
|
+
<div class="item">
|
84
|
+
<a name="concat" class="Q">Concatenating</a>
|
85
|
+
<p></p>
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<p class="codebox"><a href="perl_module.html#vcf-concat">vcf-concat</a> A.vcf.gz B.vcf.gz C.vcf.gz | bgzip -c > out.vcf.gz
|
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</p>
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<div class="item">
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<a name="convert" class="Q">Converting</a>
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<p></p>
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<p class="codebox">
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# Convert between VCF versions <br>
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zcat file.vcf.gz | <a href="perl_module.html#vcf-convert">vcf-convert</a> -r reference.fa | bgzip -c > out.vcf.gz <br>
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<br>
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# Convert from VCF format to tab-delimited text file <br>
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zcat file.vcf.gz | <a href="perl_module.html#vcf-to-tab">vcf-to-tab</a> > out.tab <br>
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</p>
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<div class="item">
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<a name="isec" class="Q">Intersections, complements</a>
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<p></p>
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<p class="codebox">
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# Include positions which appear in at least two files <br>
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<a href="perl_module.html#vcf-isec">vcf-isec</a> -o -n +2 A.vcf.gz B.vcf.gz C.vcf.gz | bgzip -c > out.vcf.gz <br>
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<br>
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# Exclude from A positions which appear in B and/or C <br>
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<a href="perl_module.html#vcf-isec">vcf-isec</a> -c A.vcf.gz B.vcf.gz C.vcf.gz | bgzip -c > out.vcf.gz <br>
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<div class="item">
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<a name="merge" class="Q">Merging</a>
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<p></p>
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<p class="codebox">
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<a href="perl_module.html#vcf-merge">vcf-merge</a> A.vcf.gz B.vcf.gz | bgzip -c > C.vcf.gz
|
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</p>
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</div>
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<div class="item">
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<a name="isec" class="Q">Querying</a>
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<p></p>
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<p class="codebox"><a href="perl_module.html#vcf-query">vcf-query</a> file.vcf.gz 1:10327-10330 -c NA0001
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</p>
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</div>
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<div class="item">
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<a name="shuffle" class="Q">Reordering columns</a>
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<p></p>
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<p class="codebox"><a href="perl_module.html#vcf-shuffle-cols">vcf-shuffle-cols</a> -t template.vcf.gz file.vcf.gz > out.vcf
|
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</p>
|
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</div>
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<div class="item">
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<a name="stats" class="Q">Stats</a>
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<p></p>
|
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<p class="codebox"><a href="perl_module.html#vcf-stats">vcf-stats</a> file.vcf.gz
|
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</p>
|
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</div>
|
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|
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<div class="item">
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<a name="subset" class="Q">Stripping columns</a>
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<p></p>
|
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<p class="codebox"><a href="perl_module.html#vcf-subset">vcf-subset</a> -c NA0001,NA0002 file.vcf.gz | bgzip -c > out.vcf.gz
|
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</p>
|
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</div>
|
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<div class="item">
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<a name="one-liners" class="Q">Useful shell one-liners</a>
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<p> This sections lists some usefull one line commands. Note that there are also dedicated convenience scripts
|
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<a href="perl_module.html#vcf-sort">vcf-sort</a> and <a href="perl_module.html#vcf-concat">vcf-concat</a>
|
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which do the same but also perform some basic sanity checks.
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All examples in BASH.</p>
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<p class="codebox">
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# Replace VCF header. The file must be compressed by bgzip. <br>
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tabix -r header.txt in.vcf.gz > out.vcf.gz <br>
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<br>
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# Sort VCF file keeping the header. The head command is for performance. <br>
|
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(zcat file.vcf.gz | head -100 | grep ^#; <br>
|
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zcat file.vcf.gz | grep -v ^# | sort -k1,1d -k2,2n;) \ <br>
|
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| bgzip -c > out.vcf.gz <br>
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<br>
|
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# Merge (that is, concatenate) two VCF files into one, keeping the header <br>
|
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# from first one only. <br>
|
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(zcat A.vcf.gz | head -100 | grep ^#; \ <br>
|
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zcat A.vcf.gz | grep -v ^#; \ <br>
|
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zcat B.vcf.gz | grep -v ^#; ) \ <br>
|
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| bgzip -c > out.vcf.gz
|
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</p>
|
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</div>
|
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|
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<div class="item">
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<a name="validator" class="Q">VCF validation</a>
|
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<p> Both <span class="cmd">vcftools</span> and <span class="cmd">Vcf.pm</span> can be used for validation. The
|
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first validates VCFv4.0, the latter is able to validate the older versions as well.
|
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</p>
|
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<p class="codebox">
|
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perl -M<a href="perl_module.html#Vcf.pm">Vcf</a> -e validate example.vcf <br>
|
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perl -I/path/to/the/module/ -M<a href="perl_module.html#Vcf.pm">Vcf</a> -e validate example.vcf <br>
|
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<a href="perl_module.html#vcf-validator">vcf-validator</a> example.vcf
|
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</p>
|
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</div>
|
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|
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<div class="item">
|
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<a name="more" class="Q">...and more</a>
|
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<p>This page gives just a list of basic capabilities. For more, please go to the <a href="options.html">vcftools's options</a> page
|
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and the <a href="perl_module.html">Perl API and scripts</a> page.</p>
|
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</div>
|
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|
@@ -0,0 +1,52 @@
|
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|
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<div class="item">
|
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<h1>Welcome to VCFtools</h1>
|
4
|
+
<p>Welcome to VCFtools - a program package designed for working with VCF
|
5
|
+
files, such as those generated by the 1000 Genomes Project. The aim of
|
6
|
+
VCFtools is to provide methods for working with VCF files: validating,
|
7
|
+
merging, comparing and calculate some basic population genetic statistics.
|
8
|
+
</p>
|
9
|
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</div>
|
10
|
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|
11
|
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<div class="item">
|
12
|
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<h3>Supported VCF versions</h3>
|
13
|
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<p>VCFtools supports the <a href="specs.html">VCF format v4.0</a>. The
|
14
|
+
vcf-validator, Perl API and scripts now support also <a href="specs.html">VCF format v4.1</a> and
|
15
|
+
maintain backward compatibility with older versions.
|
16
|
+
<br>
|
17
|
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For details, please go to the <a href="docs.html">Documentation</a> page.</p>
|
18
|
+
</div>
|
19
|
+
|
20
|
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<div class="item">
|
21
|
+
<h3>Mailing List</h3>
|
22
|
+
<p>Anything VCF or VCFtools related may be discussed on the project's <a href="http://sourceforge.net/mail/?group_id=279407">mailing list</a>.</p>
|
23
|
+
</div>
|
24
|
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|
25
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<div class="item">
|
26
|
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<h3>Download</h3>
|
27
|
+
<p>
|
28
|
+
The <b>latest stable release</b> can be downloaded from here:</p>
|
29
|
+
<p class="codebox" style="text-align: center;"><a href="https://sourceforge.net/projects/vcftools/files/">https://sourceforge.net/projects/vcftools/files/</a></p>
|
30
|
+
<p>
|
31
|
+
The <b>latest development version</b> can be retrieved by running the following command:
|
32
|
+
</p>
|
33
|
+
<p class="codebox" style="text-align: center;"> svn checkout https://vcftools.svn.sourceforge.net/svnroot/vcftools vcftools </p>
|
34
|
+
<p>
|
35
|
+
The above command is required to be run only once, for any subsequent updates run this command from the vcftools directory:
|
36
|
+
</p>
|
37
|
+
<p class="codebox" style="text-align: center;"> svn update </p>
|
38
|
+
</div>
|
39
|
+
<div class="item">
|
40
|
+
<h3>How to use</h3>
|
41
|
+
The VCFtools package includes a set of tools for
|
42
|
+
<ul>
|
43
|
+
<li> validating
|
44
|
+
<li> comparing
|
45
|
+
<li> merging
|
46
|
+
<li> annotating
|
47
|
+
<li> creating intersections and subsets
|
48
|
+
<li> ...
|
49
|
+
</ul>
|
50
|
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For details, please go to the <a href="docs.html">Documentation</a> page.
|
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|
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</div>
|
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|
@@ -0,0 +1,80 @@
|
|
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|
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<?php
|
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|
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|
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|
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function validate_path($path)
|
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|
+
{
|
5
|
+
if ( preg_match("/^[A-Za-z0-9_]+$/",$path) && file_exists("src/$path.inc") ) return $path;
|
6
|
+
return "index";
|
7
|
+
}
|
8
|
+
|
9
|
+
$titles = array(
|
10
|
+
'index' => 'VCFtools',
|
11
|
+
'perl_module' => 'VCFtools: Perl tools and API',
|
12
|
+
'docs' => 'VCFtools Documentation',
|
13
|
+
'license' => 'VCFtools License',
|
14
|
+
'specs' => 'VCF Specification',
|
15
|
+
'links' => 'VCF Links',
|
16
|
+
'options' => 'vcftools Options',
|
17
|
+
);
|
18
|
+
|
19
|
+
if (isset($argc)) { $_GET['pg']=$argv[1]; }
|
20
|
+
$path = array_key_exists('pg',$_GET) ? validate_path($_GET['pg']) : 'index';
|
21
|
+
$title = array_key_exists($path,$titles) ? $titles[$path] : $titles['index'];
|
22
|
+
|
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|
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|
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|
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?>
|
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<!DOCTYPE html PUBLIC "-//W3C//DTD HTML 4.01//EN" "http://www.w3.org/TR/html4/strict.dtd">
|
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<html>
|
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<head>
|
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<script type="text/javascript">
|
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|
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var gaJsHost = (("https:" == document.location.protocol) ? "https://ssl." : "http://www.");
|
30
|
+
document.write(unescape("%3Cscript src='" + gaJsHost + "google-analytics.com/ga.js' type='text/javascript'%3E%3C/script%3E"));
|
31
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</script>
|
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<script type="text/javascript">
|
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try {
|
34
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+
var pageTracker = _gat._getTracker("UA-272183-4");
|
35
|
+
pageTracker._trackPageview();
|
36
|
+
} catch(err) {}
|
37
|
+
</script>
|
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|
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|
+
<meta http-equiv="content-type" content="text/html; charset=ISO-8859-1">
|
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|
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<link rel="stylesheet" type="text/css" href="default.css" media="screen">
|
41
|
+
<link href='favicon.png' rel='shortcut icon' type='image/png'>
|
42
|
+
<link href='favicon.png' rel='icon' type='image/png'>
|
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+
|
44
|
+
<title><?php echo $title; ?></title>
|
45
|
+
</head>
|
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+
|
47
|
+
|
48
|
+
|
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|
+
<body>
|
50
|
+
<div class="container">
|
51
|
+
<div class="main">
|
52
|
+
<div class="header">
|
53
|
+
<div class="title">
|
54
|
+
<a href="index.html">VCFtools</a>
|
55
|
+
</div>
|
56
|
+
</div>
|
57
|
+
<div class="content">
|
58
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+
|
59
|
+
<?php
|
60
|
+
include("$path.inc");
|
61
|
+
?>
|
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+
|
63
|
+
</div>
|
64
|
+
|
65
|
+
<div class="sidenav">
|
66
|
+
<h1>Navigation</h1>
|
67
|
+
<ul>
|
68
|
+
<li><a href="index.html">Main</a></li>
|
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|
+
<li><a href="http://sourceforge.net/projects/vcftools/">Sourceforge page</a></li>
|
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<li><a href="docs.html">Documentation</a></li>
|
71
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<li><a href="license.html">License</a></li>
|
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|
+
<li><a href="specs.html">VCF specification</a></li>
|
73
|
+
<li><a href="links.html">Links</a></li>
|
74
|
+
<li><a href="http://www.1000genomes.org/">1000 Genomes</a></li>
|
75
|
+
</ul>
|
76
|
+
</div>
|
77
|
+
<div class="clearer"><span></span></div>
|
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|
+
</div>
|
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|
+
</div>
|
80
|
+
</body></html>
|
@@ -0,0 +1,27 @@
|
|
1
|
+
|
2
|
+
<div class="item">
|
3
|
+
<h1>License</h1>
|
4
|
+
<p>The program package is released under the GNU General Public License version 3.0 (GPLv3).</p>
|
5
|
+
</div>
|
6
|
+
|
7
|
+
<div class="item">
|
8
|
+
<h1>Citing VCFtools</h1>
|
9
|
+
<p>If you make use of VCFtools in your research, we would appreciate a citation of the following
|
10
|
+
paper:<br><br>
|
11
|
+
<a href="http://dx.doi.org/10.1093/bioinformatics/btr330"><i>The Variant Call Format and VCFtools</i></a>,
|
12
|
+
Petr Danecek, Adam Auton, Goncalo Abecasis, Cornelis A. Albers, Eric Banks, Mark A. DePristo,
|
13
|
+
Robert Handsaker, Gerton Lunter, Gabor Marth, Stephen T. Sherry, Gilean McVean, Richard Durbin
|
14
|
+
and 1000 Genomes Project Analysis Group, <b>Bioinformatics</b>, 2011
|
15
|
+
</p>
|
16
|
+
</div>
|
17
|
+
|
18
|
+
<div class="item">
|
19
|
+
<h1>Authors</h1>
|
20
|
+
<p>The program package is maintained and developed by</p>
|
21
|
+
<ul>
|
22
|
+
<li> <a href="http://www.adamauton.com/">Adam Auton</a> (C++ Module)
|
23
|
+
<li> Petr Danecek (Perl Module)
|
24
|
+
</ul>
|
25
|
+
</div>
|
26
|
+
|
27
|
+
|
@@ -0,0 +1,13 @@
|
|
1
|
+
|
2
|
+
<div class="item">
|
3
|
+
<h1>VCF related links</h1>
|
4
|
+
<p>If you know of any other VCF-related resources, please let us know.</p>
|
5
|
+
<li><a href="http://sourceforge.net/projects/samtools/files/tabix/">tabix</a> - Tabix is an indexing tool that is required for certain features in VCFtools. </a>
|
6
|
+
<li><a href="https://github.com/ekg/vcflib">vcflib</a> - A simple C++ library for parsing and manipulating VCF files from Erik Garrison. </a></li>
|
7
|
+
<li><a href="https://github.com/indapa/VcfPythonUtils">VcfPythonUtils</a> - Some Python utilities to work with VCF from Amit Indap. </a></li>
|
8
|
+
<li><a href="http://www.broadinstitute.org/gsa/wiki/index.php/The_Genome_Analysis_Toolkit">The Genome Analysis Toolkit</a> - The GATK Java package from the Broad includes a number of routines for generating and manipulating VCF file.</a></li>
|
9
|
+
<li><a href="https://github.com/AlistairNWard/vcfCTools">vcfCTools</a> - C++ implementation of vcfPytools from Alistair Ward.
|
10
|
+
</div>
|
11
|
+
|
12
|
+
|
13
|
+
|