# HG changeset patch # User stef # Date 1419866652 18000 # Node ID 3f55530dedd00fddcc93a27e7342ccaa781239f9 # Parent 150c2182f77ec44b21923f6894d4f66281c70ab4 Uploaded diff -r 150c2182f77e -r 3f55530dedd0 falcoCall.xml --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falcoCall.xml Mon Dec 29 10:24:12 2014 -0500 @@ -0,0 +1,133 @@ + + + + + samtools + R + + + + + FALCO: Amplicon Analysis Pipeline + + + falco-call.sh $falco_cfg; + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + \S+ + + + + + + + + + + + + + + + + + + filter_file=$filter_file + manifest_file=$manifest_file + bam_file=$bam + bam_name=$bam.name + html_out=$html_output + vcf_out=$vcf_output + out_path=${html_output.files_path} + ## reference source + REF_SOURCE="${genomeSource.refGenomeSource}" + #if $genomeSource.refGenomeSource == "history": + ##build index on the fly + REF_FILE="${genomeSource.ownFile}" + DB_KEY="${dbkey}" + #else: + ##use precomputed indexes + REF_FILE="${genomeSource.indices.fields.path}" + #end if + + + + + + + + + + + + + + + + + + +.. class:: infomark + +**Introduction** + +This tool is a wrapper for the variant caller FALCO_ which is part of the Amplicon Analysis Pipeline (AAP) + +.. _FALCO: https://github.com/tgac-vumc/falco/ + +Calls and annotates genomic variants for each amplicon in a design. + +**Notes** + +Because each amplicon is considered separate test, if two amplicons overlap this can cause the same variant position to be present twice in the output VCF. This is intentional, you can use this to evaluate the quality of the variant call beyond the amplicon. + +----- + +**Citation** + +For the underlying tool please cite: Daoud Sie et al. Performance of amplicon-based next generation DNA sequencing for diagnostic gene mutation profiling in oncopathology (Cell Oncol 2014 Oct;37(5):353-61). [Pubmed] + +.. _Pubmed: http://www.ncbi.nlm.nih.gov/pubmed/25209392 + + + +