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

TitleGenetic linkage analysis in the age of whole-genome sequencing.
Publication TypeJournal Article
Year of Publication2015
AuthorsOtt, J, Wang, J, Leal, SM
JournalNat Rev Genet
Date Published2015 May
KeywordsAlgorithms, Female, Genetic Linkage, Genome, Human, Genome-Wide Association Study, Genotyping Techniques, Humans, Lod Score, Male, Pedigree, Penetrance, Phenotype, Polymorphism, Single Nucleotide, Sequence Analysis, DNA, Software

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.

Alternate JournalNat. Rev. Genet.
PubMed ID25824869
PubMed Central IDPMC4440411
Grant ListR01 DC003594 / DC / NIDCD NIH HHS / United States
R01 DC011651 / DC / NIDCD NIH HHS / United States
UM1 HG006493 / HG / NHGRI NIH HHS / United States