Article
A new testing strategy to identify rare variants with either risk or protective effect on disease.
PLoS genetics - 3 Feb 2011
Ionita-Laza Iuliana, Buxbaum Joseph D, Laird Nan M, Lange Christoph
Abstract excerpt
Rapid advances in sequencing technologies set the stage for the large-scale medical sequencing efforts to be performed in the near future, with the goal of assessing the importance of rare variants in complex diseases. The discovery of new disease susceptibility genes requires powerful statistical methods for rare variant analysis. The low frequency and the expected large number of such variants pose great...
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