Genetic linkage analysis in the age of whole-genome sequencing.

Genetic linkage analysis in the age of whole-genome sequencing.
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全基因组测序时代的遗传连锁分析

DOI:
10.1038/nrg3908
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发表时间:
2015-05
期刊:
Nature reviews. Genetics
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其他
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多年来,连锁分析是孟德尔遗传图谱和具有家族聚集的复杂性状遗传图谱的主要工具。连锁分析在很大程度上被广泛采用的全基因组关联研究(GWAS)所取代。然而,随着最近全基因组测序 (WGS) 的使用增加,连锁分析再次成为识别疾病病因相关基因的重要而强大的分析方法,通常与 WGS 过滤方法结合使用。在这里,我们回顾了连锁分析的原理,并为使用 WGS 数据进行连锁研究提供了实用指南。
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.
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