Glanzmann Brigitte, Herbst Hendri, Kinnear Craig J, Möller Marlo, Gamieldien Junaid, Bardien Soraya
Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
Department of Law, Faculty of Law, Stellenbosch University, Cape Town, South Africa.
Source Code Biol Med. 2016 Jul 1;11:10. doi: 10.1186/s13029-016-0056-8. eCollection 2016.
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.
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).
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.
全外显子组测序（WES）为研究人员提供了一种手段，使其能够获取人类基因组中高度富集的子集，以寻找可能致病的变异，并有可能深入了解疾病机制。在发展中国家，生物信息学能力和专业知识严重受限，实验台科学家需要承担理解和应用他们所能使用的大量生物信息学工具这一具有挑战性的任务。
我们设计了一种用于过滤WES数据的新方法，称为TAPER™（用于自动选择和优先排序以高效检索序列变异的工具）。
TAPER™实施了一组逻辑步骤，通过这些步骤对可能与疾病相关的候选变异进行优先排序，其目的是在生物信息学能力有限的生物医学实验室中实施。TAPER™是免费的，可以在Windows操作系统（从Windows 7及以上）上设置，并且不需要任何编程知识。总之，我们开发了一种免费工具，可简化从WES数据中进行变异优先排序，以促进致病基因的发现。
