Ahmed P Husayn, V Vidhya, More Ravi Prabhakar, Viswanath Biju, Jain Sanjeev, Rao Mahendra S, Mukherjee Odity
1 Accelerator Program for Discovery in Brain Disorders Using Stem Cells (ADBS), National Centre for Biological Sciences, Tata Institute of Fundamental Research (NCBS-TIFR), Bengaluru, India.
2 Institute of Bioinformatics and Applied Biotechnology (IBAB), Bengaluru, India.
J Comput Biol. 2019 Mar;26(3):225-234. doi: 10.1089/cmb.2018.0199. Epub 2019 Jan 7.
Deep sequencing-based genetic mapping has greatly enhanced the ability to catalog variants with plausible disease association. Confirming how these identified variants contribute to specific disease conditions, across human populations, poses the next challenge. Differential selection pressure may impact the frequency of genetic variations, and thus detection of association with disease conditions, across populations. To understand genotype to phenotype correlations, it thus becomes important to first understand the spectrum of genetic variation within a population by creating a reference map. In this study, we report the development of phase I of a new database of genetic variations called INDian EXome database (INDEX-db), from the Indian population, with an aim to establish a centralized database of integrated information. This could be useful for researchers involved in studying disease mechanisms at clinical, genetic, and cellular levels.
基于深度测序的基因图谱绘制极大地增强了对具有合理疾病关联性的变异进行编目的能力。确定这些已识别的变异如何在整个人类群体中导致特定疾病状况,是接下来面临的挑战。不同的选择压力可能会影响基因变异的频率,进而影响跨群体中与疾病状况关联的检测。为了理解基因型与表型的相关性,因此首先通过创建一个参考图谱来了解群体内的基因变异谱就变得很重要。在本研究中,我们报告了一个名为印度外显子组数据库(INDEX-db)的新基因变异数据库第一阶段的开发情况,该数据库来自印度人群,旨在建立一个集成信息的集中式数据库。这对于参与临床、基因和细胞水平疾病机制研究的人员可能会有用。