Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Lawrence, Michael, Gentleman, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
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
_version_ 1783307938503327744
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