4.7 Article

cyvcf2: fast, flexible variant analysis with Python

Journal

BIOINFORMATICS
Volume 33, Issue 12, Pages 1867-1869

Publisher

OXFORD UNIV PRESS
DOI: 10.1093/bioinformatics/btx057

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Funding

  1. US National Human Genome Research Institute [NIH R01HG006693]

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Motivation: Variant call format (VCF) files document the genetic variation observed after DNA sequencing, alignment and variant calling of a sample cohort. Given the complexity of the VCF format as well as the diverse variant annotations and genotype metadata, there is a need for fast, flexible methods enabling intuitive analysis of the variant data within VCF and BCF files. Results: We introduce cyvcf2, a Python library and software package for fast parsing and querying of VCF and BCF files and illustrate its speed, simplicity and utility. Contact: bpederse@gmail.com or aaronquinlan@gmail.com Availability and Implementation: cyvcf2 is available from https://github.com/brentp/cyvcf2 under the MIT license and from common python package managers. Detailed documentation is available at http://brentp.github.io/cyvcf2/

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