Mercurial > repos > iuc > gemini_lof_sieve
diff gemini_lof_sieve.xml @ 0:be7ac09bc2fa draft
planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/gemini commit 4bbfca6f0e9cae9a8f263aad4eab7304c96358c4
author | iuc |
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date | Thu, 18 Feb 2016 08:53:32 -0500 |
parents | |
children | 93a391b4602c |
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--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/gemini_lof_sieve.xml Thu Feb 18 08:53:32 2016 -0500 @@ -0,0 +1,52 @@ +<tool id="gemini_@BINARY@" name="GEMINI @BINARY@" version="@VERSION@.0"> + <description>Filter LoF variants by transcript position and type</description> + <macros> + <import>gemini_macros.xml</import> + <token name="@BINARY@">lof_sieve</token> + </macros> + <expand macro="requirements" /> + <expand macro="stdio" /> + <expand macro="version_command" /> + <command> +<![CDATA[ + gemini @BINARY@ + "${ infile }" + > "${ outfile }" +]]> + </command> + <inputs> + <expand macro="infile" /> + </inputs> + <outputs> + <data name="outfile" format="tabular" /> + </outputs> + <tests> + <test> + <param name="infile" value="gemini_burden_input.db" ftype="gemini.sqlite" /> + <output name="outfile" file="gemini_lofsieve_result.tabular" /> + </test> + </tests> + <help><![CDATA[ +**What it does** + +*Filter LoF variants by transcript position and type* + +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. + +**Example** + +Output with default settings:: + + chrom start end ref alt highest_impact aa_change var_trans_pos trans_aa_length var_trans_pct sample genotype gene transcript trans_type + chr22 17072346 17072347 C T stop_gain W365* 365 557 0.655296229803 NA19327 C|T CCT8L2 ENST00000359963 protein_coding + chr22 17072346 17072347 C T stop_gain W365* 365 557 0.655296229803 NA19375 T|C CCT8L2 ENST00000359963 protein_coding + chr22 17129539 17129540 C T splice_donor None None None None NA18964 T|C TPTEP1 ENST00000383140 lincRNA + chr22 17129539 17129540 C T splice_donor None None None None NA19675 T|C TPTEP1 ENST00000383140 lincRNA + + ]]></help> + <expand macro="citations"/> +</tool>