Ontology highlight
ABSTRACT:
SUBMITTER: O'Roak BJ
PROVIDER: S-EPMC3528801 | biostudies-literature | 2012 Dec
REPOSITORIES: biostudies-literature
Science (New York, N.Y.) 20121115 6114
Exome sequencing studies of autism spectrum disorders (ASDs) have identified many de novo mutations but few recurrently disrupted genes. We therefore developed a modified molecular inversion probe method enabling ultra-low-cost candidate gene resequencing in very large cohorts. To demonstrate the power of this approach, we captured and sequenced 44 candidate genes in 2446 ASD probands. We discovered 27 de novo events in 16 genes, 59% of which are predicted to truncate proteins or disrupt splicin ...[more]