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Article

Integrated annotation and analysis of genetic variants from next-generation sequencing studies with variant tools.

Bioinformatics (Oxford, England) - 1 Feb 2012

San Lucas F Anthony, Wang Gao, Scheet Paul, Peng Bo

Abstract excerpt

MOTIVATION: Storing, annotating and analyzing variants from next-generation sequencing projects can be difficult due to the availability of a wide array of data formats, tools and annotation sources, as well as the sheer size of the data files. Useful tools, including the GATK, ANNOVAR and BEDTools can be integrated into custom pipelines for annotating and analyzing sequence variants. However, building flexible...

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Share to Genetic Variation
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22138362
DOI: 10.1093/bioinformatics/btr667
PMCID: PMC3268240

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