Mercurial > repos > yusuf > annotate_hgvs
diff AnnotateVariants.xml @ 0:9977d1935a07 default tip
initial commit
author | Yusuf Ali <ali@yusuf.email> |
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date | Wed, 25 Mar 2015 13:10:47 -0600 |
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--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/AnnotateVariants.xml Wed Mar 25 13:10:47 2015 -0600 @@ -0,0 +1,29 @@ +<?xml version="1.0"?> + +<tool id="hgvs_annotation_2" name="Annotate an HGVS table"> + <requirements> + <requirement type="package">genesplicer</requirement> + <requirement type="package">human</requirement> + <requirement type="package">score3.pl</requirement> + <requirement type="package">score5.pl</requirement> + </requirements> + + <description>with deleterious AA and splicing change predictions, protein domain disruptions, etc.</description> + <version_string>hgvs_table_annotate -v</version_string> + <command interpreter="perl">hgvs_table_annotate $__tool_data_path__ -q /sift/hg19 /polyphen2/hg19.txt.gz /dbs/gerp/hg19 /dbs/TissueDistributionDBs/human.v2009-07-30.tab /dbs/pathways/KEGG.human.2012-09-25.txt /dbs/interpro_supermatch_hg19.bed /dbs/OMIM/morbidmap $input_hgvs_table $out_hgvs_annotated_table /hg19.fa</command> + <inputs> + <param format="achri_snp_table" name="input_hgvs_table" type="data" label="Variant calls table with HGVS syntax"/> + </inputs> + <outputs> + <data format="achri_annotated_snp_table" name="out_hgvs_annotated_table" type="data" label="Functionally annotated HGVS variant table"/> + </outputs> + + <tests> + </tests> + + <help> +This tool reports several functional attributes, and potential for functional disturbance, based on genes that have declared sequence variants. +These results can be used to help find the genetic cause of a clinical phenotype. + </help> + +</tool>