Suppr超能文献

同源性检测方法的当前发展与应用

Current Developments in Detection of Identity-by-Descent Methods and Applications.

作者信息

Sticca Evan L, Belbin Gillian M, Gignoux Christopher R

机构信息

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.

出版信息

Front Genet. 2021 Sep 10;12:722602. doi: 10.3389/fgene.2021.722602. eCollection 2021.

Abstract

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.

摘要

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。

相似文献

1
Current Developments in Detection of Identity-by-Descent Methods and Applications.同源性检测方法的当前发展与应用
Front Genet. 2021 Sep 10;12:722602. doi: 10.3389/fgene.2021.722602. eCollection 2021.
10
An effective filter for IBD detection in large data sets.一种用于在大数据集中检测炎症性肠病的有效过滤器。
PLoS One. 2014 Mar 25;9(3):e92713. doi: 10.1371/journal.pone.0092713. eCollection 2014.

引用本文的文献

2

本文引用的文献

6
Population-Specific Recombination Maps from Segments of Identity by Descent.基于血缘同一性片段的特定人群重组图谱。
Am J Hum Genet. 2020 Jul 2;107(1):137-148. doi: 10.1016/j.ajhg.2020.05.016. Epub 2020 Jun 12.
10
Estimating the Genome-wide Mutation Rate with Three-Way Identity by Descent.利用三亲同缘关系估计全基因组突变率。
Am J Hum Genet. 2019 Nov 7;105(5):883-893. doi: 10.1016/j.ajhg.2019.09.012. Epub 2019 Oct 3.

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验