Article
Direct measure of the de novo mutation rate in autism and schizophrenia cohorts.
American journal of human genetics - 10 Sept 2010
Awadalla Philip, Gauthier Julie, Myers Rachel A, Casals Ferran, Hamdan Fadi F, Griffing Alexander R, Côté Mélanie, Henrion Edouard, Spiegelman Dan, Tarabeux Julien, Piton Amélie, Yang Yan, Boyko Adam, Bustamante Carlos, Xiong Lan, Rapoport Judith L, Addington Anjené M, DeLisi J Lynn E, Krebs Marie-Odile, Joober Ridha, Millet Bruno, Fombonne Eric, Mottron Laurent, Zilversmit Martine, Keebler Jon, Daoud Hussein, Marineau Claude, Roy-Gagnon Marie-Hélène, Dubé Marie-Pierre, Eyre-Walker Adam, Drapeau Pierre, Stone Eric A, Lafrenière Ronald G, Rouleau Guy A
Abstract excerpt
The role of de novo mutations (DNMs) in common diseases remains largely unknown. Nonetheless, the rate of de novo deleterious mutations and the strength of selection against de novo mutations are critical to understanding the genetic architecture of a disease. Discovery of high-impact DNMs requires substantial high-resolution interrogation of partial or complete genomes of families via resequencing. We...
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