全基因组测序时代的基因连锁分析
Genetic linkage analysis in the age of whole-genome sequencing.
作者信息
Ott Jurg, Wang Jing, Leal Suzanne M
机构信息
1] Key Laboratory of Mental Health, Institute of Psychology, Chinese Academy of Sciences, 16 Lincui Road, Beijing 100101, China. [2] Laboratory of Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, New York 10065, USA.
Key Laboratory of Mental Health, Institute of Psychology, Chinese Academy of Sciences, 16 Lincui Road, Beijing 100101, China.
出版信息
Nat Rev Genet. 2015 May;16(5):275-84. doi: 10.1038/nrg3908. Epub 2015 Mar 31.
Abstract
For many years, linkage analysis was the primary tool used for the genetic mapping of Mendelian and complex traits with familial aggregation. Linkage analysis was largely supplanted by the wide adoption of genome-wide association studies (GWASs). However, with the recent increased use of whole-genome sequencing (WGS), linkage analysis is again emerging as an important and powerful analysis method for the identification of genes involved in disease aetiology, often in conjunction with WGS filtering approaches. Here, we review the principles of linkage analysis and provide practical guidelines for carrying out linkage studies using WGS data.
摘要
多年来，连锁分析一直是用于对具有家族聚集性的孟德尔性状和复杂性状进行基因定位的主要工具。随着全基因组关联研究（GWAS）的广泛采用，连锁分析在很大程度上被取代。然而，随着最近全基因组测序（WGS）的使用增加，连锁分析再次成为一种重要且强大的分析方法，常用于与WGS过滤方法结合来鉴定参与疾病病因的基因。在此，我们回顾连锁分析的原理，并提供使用WGS数据进行连锁研究的实用指南。
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