A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.

ABSTRACT: Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population diffe

SUBMITTER: Casey JP 

PROVIDER: S-EPMC3303079 | biostudies-literature | 2012 Apr

REPOSITORIES: biostudies-literature