Imputation of rare variants in next-generation association studies

Jennifer L. Asimit, Eleftheria Zeggini

Publikation: Beitrag in FachzeitschriftArtikelBegutachtung

12 Zitate (Scopus)

Abstract

The role of rare variants has become a focus in the search for association with complex traits. Imputation is a powerful and cost-efficient tool to access variants that have not been directly typed, but there are several challenges when imputing rare variants, most notably reference panel selection. Extensions to rare variant association tests to incorporate genotype uncertainty from imputation are discussed, as well as the use of imputed low-frequency and rare variants in the study of population isolates.

OriginalspracheEnglisch
Seiten (von - bis)196-204
Seitenumfang9
FachzeitschriftHuman Heredity
Jahrgang74
Ausgabenummer3-4
DOIs
PublikationsstatusVeröffentlicht - Apr. 2013
Extern publiziertJa

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