Genome-Wide Association Analysis of Imputed Rare Variants: Application to Seven Common Complex Diseases

Journal article

Genome-wide association studies have been successful in identifying loci contributing effects to a range of complex human traits. The majority of reproducible associations within these loci are with common variants, each of modest effect, which together explain only a small proportion of heritability. It has been suggested that much of the unexplained genetic component of complex traits can thus be attributed to rare variation. However, genome-wide association study genotyping chips have been...

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Authors: Mägi, R; Asimit, J; Day-Williams, A; Zeggini, E; Morris, A

• Journal: Genetic Epidemiology
• Volume: 36
• Issue: 8
• Pages: 785-796
• Publication date: 2012-12-01
• DOI: 10.1002/gepi.21675
• EISSN: 1098-2272
• ISSN: 0741-0395
• Language: English
• Keywords: Rare variants; Imputation; Genome-wide association study