VariantTools: an extensible framework for developing and testing variant callers
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 ca...
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| Veröffentlicht in: | Bioinformatics (Oxford, England) England), 2017-10, Vol.33 (20), p.3311-3313 |
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| creator | Lawrence, Michael Gentleman, Robert |
| description | 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. |
| doi_str_mv | 10.1093/bioinformatics/btx450 |
| format | Article |
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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.
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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.
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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.
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| identifier | ISSN: 1367-4803 |
| ispartof | Bioinformatics (Oxford, England), 2017-10, Vol.33 (20), p.3311-3313 |
| issn | 1367-4803 1367-4811 |
| language | eng |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Oxford Journals Open Access Collection; PubMed Central; Alma/SFX Local Collection |
| subjects | Applications Notes Genomics - methods Genotyping Techniques - methods Polymorphism, Genetic Sequence Analysis, DNA - methods Software |
| title | VariantTools: an extensible framework for developing and testing variant callers |
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