A new tool for prioritization of sequence variants from whole exome sequencing data
Date
2016-07
Journal Title
Journal ISSN
Volume Title
Publisher
BioMed Central
Abstract
Background: Whole exome sequencing (WES) has provided a means for researchers to gain access to a highly
enriched subset of the human genome in which to search for variants that are likely to be pathogenic and possibly
provide important insights into disease mechanisms. In developing countries, bioinformatics capacity and expertise
is severely limited and wet bench scientists are required to take on the challenging task of understanding and
implementing the barrage of bioinformatics tools that are available to them.
Results: We designed a novel method for the filtration of WES data called TAPER™ (Tool for Automated selection
and Prioritization for Efficient Retrieval of sequence variants).
Conclusions: TAPER™ implements a set of logical steps by which to prioritize candidate variants that could be
associated with disease and this is aimed for implementation in biomedical laboratories with limited bioinformatics
capacity. TAPER™ is free, can be setup on a Windows operating system (from Windows 7 and above) and does not
require any programming knowledge. In summary, we have developed a freely available tool that simplifies variant
prioritization from WES data in order to facilitate discovery of disease-causing genes.
Description
CITATION: Glanzmann, B. et al. 2016. A new tool for prioritization of sequence variants from whole exome sequencing data. Source Code for biology and Medicine, 11:10, doi:10.1186/s13029-016-0056-8.
The original publication is available at http://scfbm.biomedcentral.com/
Publication of this article was funded by the Stellenbosch University Open Access Fund.
The original publication is available at http://scfbm.biomedcentral.com/
Publication of this article was funded by the Stellenbosch University Open Access Fund.
Keywords
Whole exome sequencing, Bioinformatics capacity, Variant identification, TAPER™ (Tool for Automated selection
and Prioritization for Efficient Retrieval of sequence variants)
Citation
Glanzmann, B. et al. 2016. A new tool for prioritization of sequence variants from whole exome sequencing data. Source Code for biology and Medicine, 11:10, doi:10.1186/s13029-016-0056-8.