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VariantTools: an extensible framework for developing and testing variant callers.


ABSTRACT: Variant calling is the complex task of separating real polymorphisms from errors. The appropriate strategy will depend on characteristics of the sample, the sequencing methodology and on the questions of interest.We present VariantTools, an extensible framework for developing and testing variant callers. There are facilities for reproducibly tallying, filtering, flagging and annotating variants. The tools are extensible, modular and flexible, so that they are tunable to particular use cases, and they interoperate with existing analysis software so that they can be embedded in established work flows.VariantTools is available from http://www.bioconductor.org/.michafla@gene.com.Supplementary data are available at Bioinformatics online.

SUBMITTER: Lawrence M 

PROVIDER: S-EPMC5860039 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature

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VariantTools: an extensible framework for developing and testing variant callers.

Lawrence Michael M   Gentleman Robert R  

Bioinformatics (Oxford, England) 20171001 20


<h4>Motivation</h4>Variant calling is the complex task of separating real polymorphisms from errors. The appropriate strategy will depend on characteristics of the sample, the sequencing methodology and on the questions of interest.<h4>Results</h4>We present VariantTools, an extensible framework for developing and testing variant callers. There are facilities for reproducibly tallying, filtering, flagging and annotating variants. The tools are extensible, modular and flexible, so that they are t  ...[more]

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