title: A new tool for prioritization of sequence variants from whole exome sequencing data.
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.
authors.affiliation: Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
authors.forename: Brigitte
authors.initials: B
authors.lastname: Glanzmann
authors.affiliation: Department of Law, Faculty of Law, Stellenbosch University, Cape Town, South Africa.
authors.forename: Hendri
authors.initials: H
authors.lastname: Herbst
authors.affiliation: SA MRC Centre for TB Research, DST/NRF Centre of Excellence for Biomedical TB Research, Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
authors.forename: Craig J
authors.initials: CJ
authors.lastname: Kinnear
authors.affiliation: SA MRC Centre for TB Research, DST/NRF Centre of Excellence for Biomedical TB Research, Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
authors.forename: Marlo
authors.initials: M
authors.lastname: Möller
authors.affiliation: South African National Bioinformatics Institute, University of the Western Cape, Cape Town, South Africa.
authors.forename: Junaid
authors.initials: J
authors.lastname: Gamieldien
authors.affiliation: Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
authors.forename: Soraya
authors.initials: S
authors.lastname: Bardien
keywords: Bioinformatics capacity; TAPER™; Variant identification; Whole exome sequencing