# HG changeset patch # User stef # Date 1419948534 18000 # Node ID 831c62364275c753aac4c0af1c08e8161f1b54c0 # Parent f3898ad0f76e6766eb25f9703307bf510838db0c Uploaded diff -r f3898ad0f76e -r 831c62364275 test.xml --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test.xml Tue Dec 30 09:08:54 2014 -0500 @@ -0,0 +1,114 @@ + + + + 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 + + + +