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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
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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 |
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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 |
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