Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline.

ABSTRACT: Autism spectrum disorders (ASDs) are a group of developmental disabilities that affect social interaction and communication and are characterized by repetitive behaviors. There is now a large body of evidence that suggests a complex role of genetics in ASDs, in which many different loci are involved. Although many current population-scale genomic studies have been demonstrably fruitful, these studies generally focus on analyzing a limited part of the genome or use a limited set of bioinformatics tools. These limitations preclude the analysis of genome-wide perturbations that may contribute to the development and severity of ASD-related phenotypes. To overcome these limitations, we have developed and utilized an integrative clinical and bioinformatics pipeline for generating a more complete

SUBMITTER: Jimenez-Barron LT 

PROVIDER: S-EPMC4850892 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature