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VariantTools: an extensible framework for developing and testing variant callers
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 a...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5860039/ https://www.ncbi.nlm.nih.gov/pubmed/29028267 http://dx.doi.org/10.1093/bioinformatics/btx450 |
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author | Lawrence, Michael Gentleman, Robert |
author_facet | Lawrence, Michael Gentleman, Robert |
author_sort | Lawrence, Michael |
collection | PubMed |
description | 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/. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. |
format | Online Article Text |
id | pubmed-5860039 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-58600392018-03-23 VariantTools: an extensible framework for developing and testing variant callers Lawrence, Michael Gentleman, Robert Bioinformatics Applications Notes 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/. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Oxford University Press 2017-10-15 2017-07-14 /pmc/articles/PMC5860039/ /pubmed/29028267 http://dx.doi.org/10.1093/bioinformatics/btx450 Text en © The Author 2017. Published by Oxford University Press. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | Applications Notes Lawrence, Michael Gentleman, Robert VariantTools: an extensible framework for developing and testing variant callers |
title | VariantTools: an extensible framework for developing and testing variant callers |
title_full | VariantTools: an extensible framework for developing and testing variant callers |
title_fullStr | VariantTools: an extensible framework for developing and testing variant callers |
title_full_unstemmed | VariantTools: an extensible framework for developing and testing variant callers |
title_short | VariantTools: an extensible framework for developing and testing variant callers |
title_sort | varianttools: an extensible framework for developing and testing variant callers |
topic | Applications Notes |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5860039/ https://www.ncbi.nlm.nih.gov/pubmed/29028267 http://dx.doi.org/10.1093/bioinformatics/btx450 |
work_keys_str_mv | AT lawrencemichael varianttoolsanextensibleframeworkfordevelopingandtestingvariantcallers AT gentlemanrobert varianttoolsanextensibleframeworkfordevelopingandtestingvariantcallers |