Sticca Evan L, Belbin Gillian M, Gignoux Christopher R
Human Medical Genetics and Genomics Program and Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, United States.
Institute for Genomic Health, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
Front Genet. 2021 Sep 10;12:722602. doi: 10.3389/fgene.2021.722602. eCollection 2021.
Identity-by-descent (IBD), the detection of shared segments inherited from a common ancestor, is a fundamental concept in genomics with broad applications in the characterization and analysis of genomes. While historically the concept of IBD was extensively utilized through linkage analyses and in studies of founder populations, applications of IBD-based methods subsided during the genome-wide association study era. This was primarily due to the computational expense of IBD detection, which becomes increasingly relevant as the field moves toward the analysis of biobank-scale datasets that encompass individuals from highly diverse backgrounds. To address these computational barriers, the past several years have seen new methodological advances enabling IBD detection for datasets in the hundreds of thousands to millions of individuals, enabling novel analyses at an unprecedented scale. Here, we describe the latest innovations in IBD detection and describe opportunities for the application of IBD-based methods across a broad range of questions in the field of genomics.
同源性(IBD),即检测从共同祖先继承而来的共享片段,是基因组学中的一个基本概念,在基因组的表征和分析中有广泛应用。虽然从历史上看,IBD的概念通过连锁分析和在奠基人群体的研究中被广泛使用,但在全基因组关联研究时代,基于IBD方法的应用有所减少。这主要是由于IBD检测的计算成本,随着该领域朝着分析包含来自高度多样化背景个体的生物样本库规模数据集发展,这一成本变得越来越重要。为了克服这些计算障碍,在过去几年中出现了新的方法进展,使得能够对数十万到数百万个体的数据集进行IBD检测,从而能够以前所未有的规模进行新颖的分析。在这里,我们描述了IBD检测的最新创新,并描述了基于IBD方法在基因组学领域广泛问题中的应用机会。