Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.


Autism Spectrum Disorder (ASD) demonstrates high heritability and familial clustering, yet the genetic causes remain only partially understood as a result of extensive clinical and genomic heterogeneity. Whole-genome sequencing (WGS) shows promise as a tool for identifying ASD risk genes as well as unreported mutations in known loci, but an assessment of… (More)
DOI: 10.1016/j.ajhg.2013.06.012


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