VariantTools: an extensible framework for developing and testing variant callers

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Abstract

Motivation

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.

Results

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.

Availability and implementation

VariantTools is available from http://www.bioconductor.org/.

Contact

michafla@gene.com

Supplementary information

Supplementary data are available at Bioinformatics online.

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