Cyvcf2: Fast, flexible variant analysis with Python

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Abstract

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.

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APA

Pedersen, B. S., & Quinlan, A. R. (2017). Cyvcf2: Fast, flexible variant analysis with Python. Bioinformatics, 33(12), 1867–1869. https://doi.org/10.1093/bioinformatics/btx057

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