Whole-genome sequencing in an autism multiplex family.

ABSTRACT:

Background

Autism spectrum disorders (ASDs) represent a group of childhood neurodevelopmental disorders that affect 1 in 88 children in the US. Previous exome sequencing studies on family trios have implicated a role for rare, de-novo mutations in the pathogenesis of autism.

Methods

To examine the utility of whole-genome sequencing to identify inherited disease candidate variants and genes, we sequenced two probands from a large pedigree, including two parents and eight children. We evaluated multiple analytical strategies to identify a prioritized list of candidate genes.

Results

By assuming a recessive model of inheritance, we identified seven candidate genes shared by the two probands. We also evaluated a different analytical strategy that does not require the assu

SUBMITTER: Shi L 

PROVIDER: S-EPMC3642023 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature