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cyvcf2: fast, flexible variant analysis with Python.
Pedersen, Brent S; Quinlan, Aaron R.
Afiliación
  • Pedersen BS; Department of Human Genetics, Department of Biomedical Informatics, and USTAR Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.
  • Quinlan AR; Department of Human Genetics, Department of Biomedical Informatics, and USTAR Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.
Bioinformatics ; 33(12): 1867-1869, 2017 Jun 15.
Article en En | MEDLINE | ID: mdl-28165109
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/.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Variación Genética / Programas Informáticos / Análisis de Secuencia de ADN / Técnicas de Genotipaje Límite: Humans Idioma: En Revista: Bioinformatics Asunto de la revista: INFORMATICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Variación Genética / Programas Informáticos / Análisis de Secuencia de ADN / Técnicas de Genotipaje Límite: Humans Idioma: En Revista: Bioinformatics Asunto de la revista: INFORMATICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos