Center for Computational Research, University at Buffalo, Buffalo, NY, USA.
Buffalo Institute for Genomics and Data Analytics, University at Buffalo, Buffalo, NY, USA.
BMC Bioinformatics. 2019 Jan 31;20(1):61. doi: 10.1186/s12859-019-2636-5.
High throughput sequencing technologies have been increasingly used in basic genetic research as well as in clinical applications. More and more variants underlying Mendelian and complex diseases are being discovered and documented using these technologies. However, identifying and obtaining a short list of candidate disease-causing variants remains challenging for most of the users after variant calling, especially for people without computational skills.
We developed GenESysV (Genome Exploration System for Variants) as a scalable, intuitive and user-friendly open source tool. It can be used in any high throughput sequencing or genotyping project for storing, managing, prioritizing and efficient retrieval of variants of interest. GenESysV is designed for use by researchers from a wide range of disciplines and computational skills, including wet-lab scientists, clinicians, and bioinformaticians.
GenESysV is the first tool to be able to handle genomic variant dataset ranging in size from a few to thousands of samples and still maintain fast data importation and good query performance. It has a very intuitive graphical user interface and can also be used in studies where secured data access is an important concern. We believe this tool will benefit the human disease research community to speed up discoveries for genetic variants underlying human genetic disorders.
高通量测序技术已越来越多地应用于基础遗传学研究和临床应用。利用这些技术，越来越多的孟德尔和复杂疾病的潜在变异被发现和记录。然而，对于大多数用户来说，在变体调用后，识别和获得候选致病变体的简短列表仍然具有挑战性，对于没有计算技能的人来说更是如此。
我们开发了 GenESysV（变体基因组探索系统）作为一种可扩展、直观且用户友好的开源工具。它可以用于任何高通量测序或基因分型项目，用于存储、管理、优先排序和高效检索感兴趣的变体。GenESysV 旨在供具有广泛学科和计算技能的研究人员使用，包括湿实验室科学家、临床医生和生物信息学家。
GenESysV 是第一个能够处理大小从几个到数千个样本的基因组变体数据集的工具，并且仍然保持快速的数据导入和良好的查询性能。它具有非常直观的图形用户界面，也可以用于需要安全数据访问的研究中。我们相信，该工具将使人类疾病研究界受益，加快发现人类遗传疾病的遗传变异。
