A new tool for prioritization of sequence variants from whole exome sequencing data

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dc.contributor.authorGlanzmann, Brigitteen_ZA
dc.contributor.authorHerbst, Hendrien_ZA
dc.contributor.authorKinnear, Craig J.en_ZA
dc.contributor.authorMoller, Marloen_ZA
dc.contributor.authorGamieldien, Junaiden_ZA
dc.contributor.authorBardien, Sorayaen_ZA
dc.date.accessioned2016-07-14T06:12:58Z
dc.date.available2016-07-14T06:12:58Z
dc.date.issued2016-07
dc.descriptionCITATION: 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.en_ZA
dc.descriptionThe original publication is available at http://scfbm.biomedcentral.com/en_ZA
dc.descriptionPublication of this article was funded by the Stellenbosch University Open Access Fund.
dc.description.abstractBackground: 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.en_ZA
dc.description.versionPublishers versionen_ZA
dc.format.extent6 pagesen_ZA
dc.identifier.citationGlanzmann, 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.en_ZA
dc.identifier.issn1751-0473 (online)en_ZA
dc.identifier.otherdoi:10.1186/s13029-016-0056-8en_ZA
dc.identifier.urihttp://hdl.handle.net/10019.1/99178
dc.language.isoen_ZAen_ZA
dc.publisherBioMed Centralen_ZA
dc.rights.holderAuthors retain copyrighten_ZA
dc.subjectWhole exome sequencingen_ZA
dc.subjectBioinformatics capacityen_ZA
dc.subjectVariant identificationen_ZA
dc.subjectTAPER™ (Tool for Automated selection and Prioritization for Efficient Retrieval of sequence variants)en_ZA
dc.titleA new tool for prioritization of sequence variants from whole exome sequencing dataen_ZA
dc.typeArticleen_ZA
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