Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder

ConclusionsIn this epidemiological sample, rare pdSNV were more common than pdCNV and the combined yield of potentially damaging variation was substantial at 27%. The results provide compelling rationale for the use of high-throughout sequencing as part of routine clinical  workup for ASD and support the development of precision medicine in ASD.
Source: Molecular Autism - Category: Molecular Biology Source Type: research