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Bioinformatics. 2018 Oct 23. doi: 10.1093/bioinformatics/bty894. [Epub ahead of print]

VCPA: genomic Variant Calling pipeline and data management tool for Alzheimer's Disease Sequencing Project.

Author information

1
Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania Richards Building, D101 3700 Hamilton Walk, Philadelphia, PA, USA.
2
Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.

Abstract

Summary:

We report VCPA, our SNP/Indel Variant Calling Pipeline and data management tool used for analysis of whole genome and exome sequencing (WGS/WES) for the Alzheimer's Disease Sequencing Project. VCPA consists of two independent but linkable components: pipeline and tracking database. The pipeline, implemented using the Workflow Description Language and fully optimized for the Amazon elastic compute cloud environment, includes steps from aligning raw sequence reads, to variant calling using GATK. The tracking database allows users to view job running status in real time and visualize >100 quality metrics per genome. VCPA is functionally equivalent to the CCDG/TOPMed pipeline. Users can use the pipeline and the dockerized database to process large WGS/WES datasets on Amazon cloud with minimal configuration.

Availability:

VCPA is released under the MIT license and is available for academic and nonprofit use for free. The pipeline source code and step-by-step instructions are available from the National Institute on Aging Genetics of Alzheimer's Disease Data Storage Site (http://www.niagads.org/VCPA).

Supplementary information:

Supplementary data are available at Bioinformatics online.

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