Article
Improved exome prioritization of disease genes through cross-species phenotype comparison.
Genome research - 1 Feb 2014
Robinson Peter N, Köhler Sebastian, Oellrich Anika, Wang Kai, Mungall Christopher J, Lewis Suzanna E, Washington Nicole, Bauer Sebastian, Seelow Dominik, Krawitz Peter, Gilissen Christian, Haendel Melissa, Smedley Damian
Abstract excerpt
Numerous new disease-gene associations have been identified by whole-exome sequencing studies in the last few years. However, many cases remain unsolved due to the sheer number of candidate variants remaining after common filtering strategies such as removing low quality and common variants and those deemed unlikely to be pathogenic. The observation that each of our genomes contains about 100 genuine...
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