X-Git-Url: https://git.arvados.org/arvados-tutorial.git/blobdiff_plain/dc853739e2dace93822a8d45bc180e96afd26632..974a6542eec937b12f7c78c308cd5dd4deee521f:/WGS-processing/README.md diff --git a/WGS-processing/README.md b/WGS-processing/README.md index 4114f95..71ec46a 100644 --- a/WGS-processing/README.md +++ b/WGS-processing/README.md @@ -1,11 +1,11 @@ This directory contains an Arvados demo showing processing of whole genome sequencing (WGS) data. The workflow includes: -* Check of fastq quality -* Local alignment using BWA-MEM -* Variant calling in parallel using GATK -* Generation of an HTML report comparing variants against ClinVar archive +* Check of fastq quality using FastQC (https://www.bioinformatics.babraham.ac.uk/projects/fastqc/) +* Local alignment using BWA-MEM (http://bio-bwa.sourceforge.net/bwa.shtml) +* Variant calling in parallel using GATK Haplotype Caller (https://gatk.broadinstitute.org/hc/en-us) +* Generation of an HTML report comparing variants against ClinVar archive (https://www.ncbi.nlm.nih.gov/clinvar/) -Workflows are written in CWL v1.1. +Workflows are written in CWL v1.1. (https://www.commonwl.org/) Subdirectories are: * cwl - contains CWL code for the demo @@ -15,10 +15,9 @@ Subdirectories are: To run the workflow: -* cd into cwl directory - -* run the following - arvados-cwl-runner --no-wait --project-uuid YOUR_PROJECT_UUID wgs-processing-wf.cwl ../yml/YOURINPUTS.yml +* run the following: + arvados-cwl-runner --no-wait --project-uuid YOUR_PROJECT_UUID ./cwl/wgs-processing-wf.cwl ./yml/YOURINPUTS.yml About the Demo Data: -WGS Data used in this demo is public data made available by the Personal Genome Project. This data is from the PGP-UK (https://www.personalgenomes.org.uk/). +WGS Data used in this demo is public data made available by the Personal Genome Project. +This set of data is from the PGP-UK (https://www.personalgenomes.org.uk/).