Cargando…

Variant Tool Chest: an improved tool to analyze and manipulate variant call format (VCF) files

BACKGROUND: Since the advent of next-generation sequencing many previously untestable hypotheses have been realized. Next-generation sequencing has been used for a wide range of studies in diverse fields such as population and medical genetics, phylogenetics, microbiology, and others. However, this...

Descripción completa

Detalles Bibliográficos
Autores principales: Ebbert, Mark TW, Wadsworth, Mark E, Boehme, Kevin L, Hoyt, Kaitlyn L, Sharp, Aaron R, O'Fallon, Brendan D, Kauwe, John SK, Ridge, Perry G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4110736/
https://www.ncbi.nlm.nih.gov/pubmed/25080132
http://dx.doi.org/10.1186/1471-2105-15-S7-S12
_version_ 1782328024078745600
author Ebbert, Mark TW
Wadsworth, Mark E
Boehme, Kevin L
Hoyt, Kaitlyn L
Sharp, Aaron R
O'Fallon, Brendan D
Kauwe, John SK
Ridge, Perry G
author_facet Ebbert, Mark TW
Wadsworth, Mark E
Boehme, Kevin L
Hoyt, Kaitlyn L
Sharp, Aaron R
O'Fallon, Brendan D
Kauwe, John SK
Ridge, Perry G
author_sort Ebbert, Mark TW
collection PubMed
description BACKGROUND: Since the advent of next-generation sequencing many previously untestable hypotheses have been realized. Next-generation sequencing has been used for a wide range of studies in diverse fields such as population and medical genetics, phylogenetics, microbiology, and others. However, this novel technology has created unanticipated challenges such as the large numbers of genetic variants. Each caucasian genome has more than four million single nucleotide variants, insertions and deletions, copy number variants, and structural variants. Several formats have been suggested for storing these variants; however, the variant call format (VCF) has become the community standard. RESULTS: We developed new software called the Variant Tool Chest (VTC) to provide much needed tools to work with VCF files. VTC provides a variety of tools for manipulating, comparing, and analyzing VCF files beyond the functionality of existing tools. In addition, VTC was written to be easily extended with new tools. CONCLUSIONS: Variant Tool Chest brings new and important functionality that complements and integrates well with existing software. VTC is available at https://github.com/mebbert/VariantToolChest
format Online
Article
Text
id pubmed-4110736
institution National Center for Biotechnology Information
language English
publishDate 2014
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-41107362014-08-05 Variant Tool Chest: an improved tool to analyze and manipulate variant call format (VCF) files Ebbert, Mark TW Wadsworth, Mark E Boehme, Kevin L Hoyt, Kaitlyn L Sharp, Aaron R O'Fallon, Brendan D Kauwe, John SK Ridge, Perry G BMC Bioinformatics Research BACKGROUND: Since the advent of next-generation sequencing many previously untestable hypotheses have been realized. Next-generation sequencing has been used for a wide range of studies in diverse fields such as population and medical genetics, phylogenetics, microbiology, and others. However, this novel technology has created unanticipated challenges such as the large numbers of genetic variants. Each caucasian genome has more than four million single nucleotide variants, insertions and deletions, copy number variants, and structural variants. Several formats have been suggested for storing these variants; however, the variant call format (VCF) has become the community standard. RESULTS: We developed new software called the Variant Tool Chest (VTC) to provide much needed tools to work with VCF files. VTC provides a variety of tools for manipulating, comparing, and analyzing VCF files beyond the functionality of existing tools. In addition, VTC was written to be easily extended with new tools. CONCLUSIONS: Variant Tool Chest brings new and important functionality that complements and integrates well with existing software. VTC is available at https://github.com/mebbert/VariantToolChest BioMed Central 2014-05-28 /pmc/articles/PMC4110736/ /pubmed/25080132 http://dx.doi.org/10.1186/1471-2105-15-S7-S12 Text en Copyright © 2014 Ebbert et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research
Ebbert, Mark TW
Wadsworth, Mark E
Boehme, Kevin L
Hoyt, Kaitlyn L
Sharp, Aaron R
O'Fallon, Brendan D
Kauwe, John SK
Ridge, Perry G
Variant Tool Chest: an improved tool to analyze and manipulate variant call format (VCF) files
title Variant Tool Chest: an improved tool to analyze and manipulate variant call format (VCF) files
title_full Variant Tool Chest: an improved tool to analyze and manipulate variant call format (VCF) files
title_fullStr Variant Tool Chest: an improved tool to analyze and manipulate variant call format (VCF) files
title_full_unstemmed Variant Tool Chest: an improved tool to analyze and manipulate variant call format (VCF) files
title_short Variant Tool Chest: an improved tool to analyze and manipulate variant call format (VCF) files
title_sort variant tool chest: an improved tool to analyze and manipulate variant call format (vcf) files
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4110736/
https://www.ncbi.nlm.nih.gov/pubmed/25080132
http://dx.doi.org/10.1186/1471-2105-15-S7-S12
work_keys_str_mv AT ebbertmarktw varianttoolchestanimprovedtooltoanalyzeandmanipulatevariantcallformatvcffiles
AT wadsworthmarke varianttoolchestanimprovedtooltoanalyzeandmanipulatevariantcallformatvcffiles
AT boehmekevinl varianttoolchestanimprovedtooltoanalyzeandmanipulatevariantcallformatvcffiles
AT hoytkaitlynl varianttoolchestanimprovedtooltoanalyzeandmanipulatevariantcallformatvcffiles
AT sharpaaronr varianttoolchestanimprovedtooltoanalyzeandmanipulatevariantcallformatvcffiles
AT ofallonbrendand varianttoolchestanimprovedtooltoanalyzeandmanipulatevariantcallformatvcffiles
AT kauwejohnsk varianttoolchestanimprovedtooltoanalyzeandmanipulatevariantcallformatvcffiles
AT ridgeperryg varianttoolchestanimprovedtooltoanalyzeandmanipulatevariantcallformatvcffiles