Mercurial > repos > yusuf > associate_phenotypes
diff AssociatePhenotypes.xml @ 0:6411ca16916e default tip
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author | Yusuf Ali <ali@yusuf.email> |
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date | Wed, 25 Mar 2015 13:23:29 -0600 |
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--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/AssociatePhenotypes.xml Wed Mar 25 13:23:29 2015 -0600 @@ -0,0 +1,128 @@ +<?xml version="1.0"?> + +<tool id="hgvs_assoc_phenos" name="Associate phenotypes to an HGVS table"> + <description>based on the medical literature</description> + <version_string>echo 1.0.0</version_string> + <command interpreter="perl">associate_variant_phenotypes $__tool_data_path__ pheno $input_hgvs_table + ## Handle preselected gene list of interest + #if $preselectedGenesSource.source == "file": + $preselectedGenesSource.file_of_genenames + #else: + #set $glist = str($preselectedGenesSource.genename_list).replace("__cr____cn__", " or ") + "$glist" + #end if + + ## Handle human literature terms + #if $litQuerySource.source == "file": + $litQuerySource.file_of_phenotypes + #else: + #set $qlist = str($litQuerySource.phenotype_list).replace("__cr____cn__", " or ") + "$qlist" + #end if + + ## Handle human phenotype ontology query + ##if $hpQuerySource.source == "file": + ##$hpQuerySource.file_of_mpterms + ##else: + ##set $hplist = str($hpQuerySource.autocomplete_OLS_HP).replace(";", " or ") + ##"$hplist" + ##end if + + ## Handle mouse knockout query (Mammalian Phenotype Ontology) + #if $mpQuerySource.source == "file": + $mpQuerySource.file_of_mpterms + #else: + #set $mplist = str($mpQuerySource.autocomplete_OLS_MP).replace(";", " or ") + "$mplist" + #end if + + ## Handle gene ontology terms + #if $goQuerySource.source == "file": + $goQuerySource.file_of_goterms + #else: + #set $golist = str($goQuerySource.autocomplete_OLS_GO).replace(";", " or ") + "$golist" + #end if + </command> + + <inputs> + <param name="outfiles_prefix" type="text" label="Prefix for output file names"/> + <param format="achri_annotated_snp_table" name="input_hgvs_table" type="data" label="Basic or functionally annotated HGVS variant table"/> + <conditional name="litQuerySource"> + <param name="source" type="select" label="How would you like to specify the phenotypes of interest?"> + <option value="list">A list</option> + <option value="file">A file</option> + </param> + <when value="file"> + <param format="text" name="file_of_phenotypes" type="data" label="Text file with one phenotype per line, from most to least important" help="Phenotypes can have boolean operators to allow word order swaps. e.g. 'Develop and delay' will match both 'delayed development' and 'developmental delay'."/> + </when> + <when value="list"> + <param name="phenotype_list" type="text" area="True" label="One phenotype per line, from most to least important" help="Phenotypes can have boolean operators to allow word order swaps. e.g. 'Develop AND delay' will match both 'delayed development' and 'developmental delay'."/> + </when> + </conditional> + + <conditional name="preselectedGenesSource"> + <param name="source" type="select" label="How would you like to specify preselected genes of interest?"> + <option value="list">A list</option> + <option value="file">A file</option> + </param> + <when value="file"> + <param format="text" name="file_of_genenames" type="data" label="Text file with one upper case gene name per line" help="It is recommended to include gene name synonyms to maximize the chance of reference recovery"/> + </when> + <when value="list"> + <param name="genename_list" type="text" area="True" label="One upper case gene name per line, e.g. ADH1" help="It is recommended to include gene name synonyms to maximize the chance of reference recovery"/> + </when> + </conditional> + + <!--<conditional name="hpQuerySource"> + <param name="source" type="select" label="How would you like to specify Human Phenotype Ontology terms of interest?"> + <option value="list">A list</option> + <option value="file">A file</option> + </param> + <when value="file"> + <param format="text" name="file_of_hpterms" type="data" label="Text file with one Human Phenotype term (text) per line"/> + </when> + <when value="list"> + <param name="autocomplete_OLS_HP" type="text" label="Semi-colon separated list of HP terms (with autocomplete)" help="For better search results, do not type punctuation or symbols. For example, if you are looking for 4'-(L-tryptophan), try typing 4 L tryp"/> + </when> + </conditional>--> + + <conditional name="mpQuerySource"> + <param name="source" type="select" label="How would you like to specify Mammalian Phenotype terms of interest?"> + <option value="list">A list</option> + <option value="file">A file</option> + </param> + <when value="file"> + <param format="text" name="file_of_mpterms" type="data" label="Text file with one Mammalian Phenotype term (text) per line"/> + </when> + <when value="list"> + <param name="autocomplete_OLS_MP" type="text" label="Semi-colon separated list of MP terms (with autocomplete)" help="For better search results, do not type punctuation or symbols. For example, if you are looking for 4'-(L-tryptophan), try typing 4 L tryp"/> + </when> + </conditional> + + <conditional name="goQuerySource"> + <param name="source" type="select" label="How would you like to specify Gene Ontology terms of interest?"> + <option value="list">A list</option> + <option value="file">A file</option> + </param> + <when value="file"> + <param format="text" name="file_of_goterms" type="data" label="Text file with one gene ontology term (text) per line"/> + </when> + <when value="list"> + <param name="autocomplete_OLS_GO" type="text" label="Semi-colon separated list of GO terms (with autocomplete)" help="For better search results, do not type punctuation or symbols. For example, if you are looking for 4'-(L-tryptophan), try typing 4 L tryp"/> + </when> + </conditional> + </inputs> + <outputs> + <data format="achri_annotated_snp_table" name="out_hgvs_table" type="data" label="${outfiles_prefix} HGVS all variants table with geno-pheno correlates" from_work_dir="pheno.common.hgvs.txt"/> + </outputs> + + <tests> + </tests> + + <help> + This tools adds columns to an HGVS table that include all of the literature references from OMIM, PubMed, ClinVar, the Human Phenotype + Ontology, the Mouse Knockout Phenotypes, and Gene Ontology that match a given set of clinical phenotype query terms. A combined + probability of gene-phenotype association is calculated to help the user rank potentially causative genes for presumed genetic disorders. + </help> +</tool>