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Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort

30 Apr 2019

Abstract excerpt

Autism spectrum disorder (ASD) is a highly heterogeneous genetic disorder with strong evidence of ASD-association currently available only for a small number of genes. This makes it challenging to identify the underlying genetic cause in many cases of ASD, and there is a continuing need for further discovery efforts. We sequenced whole genomes of 119 deeply phenotyped ASD probands in order to identify likely...

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PMID: 31038196
DOI: 10.1111/cge.13556

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