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Components of the WTSI genotype analysis pipeline. This pipeline is designed to process large volumes of raw genotyping data into genotype calls. The platform supported is Illumina Infinium genotyping microarrays, supplemented with Sequenom genotyping. Change log is located in: doc/CHANGELOG.md To install, set the $INSTALL_ROOT environment variable to the path of the desired installation directory, and run src/bash/install.sh. This installs the Perl and Ruby components of the pipeline. It recursively installs non-core Perl dependencies from CPAN, and requires approximately 120 MB of disk space. The gender check used as a QC metric is also available as a standalone application; see below. Requirements: Pipeline: Ruby 1.8.7 Percolate https://github.com/wtsi-npg/Percolate Simtools https://github.com/wtsi-npg/simtools Plinktools https://github.com/wtsi-npg/plinktools Bcftools https://github.com/samtools/bcftools Install script: cpanm >= 1.7042 http://search.cpan.org/~miyagawa/Menlo-1.9003/script/cpanm-menlo QC scripts: Simtools >= 2.2 https://github.com/wtsi-npg/simtools R >= 2.11.1 R mixtools library http://cran.r-project.org/web/packages/mixtools/index.html Pipeline metadata management: Perl >= v5.8.8 DBIx::Class http://search.cpan.org/~arodland/DBIx-Class/ SQLite http://sqlite.org/ Pipeline components: Illuminus https://github.com/wtsi-npg/Illuminus Gftools https://github.com/wtsi-npg/Gftools genotype-call https://github.com/wtsi-npg/genotype-call Environment variables: PATH Should include path to <install_dir>/bin and to simtools PERL5LIB Should include path to <install_dir>/src/perl/lib/ R_LIBS Should include path to mixtools library installation ### Gendermix: standalone gender check ### The 'Gendermix' gender check method can be installed as a standalone application. See doc/standalone_sexcheck_howto.org for more information. The standalone check omits much of the pipeline code; it does not require Ruby, Percolate, DBIx::Class, SQLite, Illuminus, or genotype-call. Other requirements are still in effect. Gendermix needs the Gftools package for I/O of Plink data, as well as R and the mixtools library. Environment variables should be set as described above.
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Components of the WTSI genotype analysis pipeline.
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