Article
Accurate imputation of rare and common variants in a founder population from a small number of sequenced individuals.
Genetic epidemiology - 1 May 2012
Uricchio Lawrence H, Chong Jessica X, Ross Kevin D, Ober Carole, Nicolae Dan L
Abstract excerpt
Advances in DNA sequencing technologies have greatly facilitated the discovery of rare genetic variants in the human genome, many of which may contribute to common disease risk. However, evaluating their individual or even collective effects on disease risk requires very large sample sizes, which involves study designs that are often prohibitively expensive. We present an alternative approach for determining...
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