Ontology highlight
ABSTRACT:
SUBMITTER: Awadalla P
PROVIDER: S-EPMC2933353 | biostudies-literature | 2010 Sep
REPOSITORIES: biostudies-literature
Awadalla Philip P Gauthier Julie J Myers Rachel A RA Casals Ferran F Hamdan Fadi F FF Griffing Alexander R AR Côté Mélanie M Henrion Edouard E Spiegelman Dan D Tarabeux Julien J Piton Amélie A Yang Yan Y Boyko Adam A Bustamante Carlos C Xiong Lan L Rapoport Judith L JL Addington Anjené M AM DeLisi J Lynn E JL Krebs Marie-Odile MO Joober Ridha R Millet Bruno B Fombonne Eric E Mottron Laurent L Zilversmit Martine M Keebler Jon J Daoud Hussein H Marineau Claude C Roy-Gagnon Marie-Hélène MH Dubé Marie-Pierre MP Eyre-Walker Adam A Drapeau Pierre P Stone Eric A EA Lafrenière Ronald G RG Rouleau Guy A GA
American journal of human genetics 20100901 3
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 hypothesized that deleterious DNMs may play a role in cases of autism spectrum disorders (ASD) ...[more]