Article
Imputation of the rare HOXB13 G84E mutation and cancer risk in a large population-based cohort.
PLoS genetics - 1 Jan 2015
Hoffmann Thomas J, Sakoda Lori C, Shen Ling, Jorgenson Eric, Habel Laurel A, Liu Jinghua, Kvale Mark N, Asgari Maryam M, Banda Yambazi, Corley Douglas, Kushi Lawrence H, Quesenberry Charles P, Schaefer Catherine, Van Den Eeden Stephen K, Risch Neil, Witte John S
Abstract excerpt
An efficient approach to characterizing the disease burden of rare genetic variants is to impute them into large well-phenotyped cohorts with existing genome-wide genotype data using large sequenced referenced panels. The success of this approach hinges on the accuracy of rare variant imputation, which remains controversial. For example, a recent study suggested that one cannot adequately impute the HOXB13 G84E...
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