Journal
NATURE REVIEWS GENETICS
Volume 16, Issue 5, Pages 275-284Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nrg3908
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Funding
- Natural Science Foundation of China [31470070]
- US National Institutes of Health [R01 DC003594, R01 DC011651, U54 HG006493]
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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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