Mercurial > repos > iuc > gemini
view gemini_lof_sieve.xml @ 1:d3c4d0208bb2 draft
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author | iuc |
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date | Wed, 27 Aug 2014 02:26:19 -0400 |
parents | 720cbfb4190d |
children | 93bb0cfacefb |
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<tool id="gemini_@BINARY@" name="GEMINI @BINARY@" version="@version@.0"> <description>Filter LoF variants by transcript position and type</description> <expand macro="requirements" /> <expand macro="version_command" /> <macros> <import>gemini_macros.xml</import> <token name="@BINARY@">lof_sieve</token> </macros> <command> <![CDATA[ gemini @BINARY@ "${ infile }" > "${ outfile }" ]]> </command> <expand macro="stdio" /> <inputs> <param name="infile" type="data" format="sqlite" label="GEMINI database" /> </inputs> <outputs> <data name="outfile" format="tabular" label="${tool.name} on ${on_string}" /> </outputs> <tests> <test> </test> </tests> <help> **What it does** Not all candidate LoF variants are created equal. For e.g, a nonsense (stop gain) variant impacting the first 5% of a polypeptide is far more likely to be deleterious than one affecting the last 5%. Assuming you’ve annotated your VCF with snpEff v3.0+, the lof_sieve tool reports the fractional position (e.g. 0.05 for the first 5%) of the mutation in the amino acid sequence. In addition, it also reports the predicted function of the transcript so that one can segregate candidate LoF variants that affect protein_coding transcripts from processed RNA, etc. @CITATION@ </help> <expand macro="citations"/> </tool>