Abstract
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.
Original language | English |
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Pages (from-to) | 1-5 |
Number of pages | 5 |
Journal | BMC Bioinformatics |
Volume | 15 |
DOIs | |
State | Published - 2014 |
Bibliographical note
Publisher Copyright:© 2014 Ebbert et al.; licensee BioMed Central Ltd.
Funding
We graciously acknowledge the resources provided for this work by grants from the NIH (R01AG042611), the Alzheimer’s Association (MNIRG-11-205368), and startup funds from Brigham Young University.
Funders | Funder number |
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National Institutes of Health (NIH) | |
National Institute on Aging | R01AG042611 |
Alzheimer's Association | MNIRG-11-205368 |
Brigham Young University–Hawaii |
ASJC Scopus subject areas
- Structural Biology
- Biochemistry
- Molecular Biology
- Computer Science Applications
- Applied Mathematics