Mercurial > repos > iuc > gemini
diff gemini_lof_sieve.xml @ 0:720cbfb4190d draft
Imported from capsule None
author | iuc |
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date | Mon, 25 Aug 2014 17:15:54 -0400 |
parents | |
children | 93bb0cfacefb |
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--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/gemini_lof_sieve.xml Mon Aug 25 17:15:54 2014 -0400 @@ -0,0 +1,39 @@ +<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>