An international collaboration has assembled DNA samples and detailed phenotypic information from >13,000 individuals with a clinical diagnosis of either autism spectrum disorder (ASD) or intellectual disability/developmental delay (ID/DD). The application of molecular inversion probe technologies to sequence 208 candidate genes at scale in this impressive resource has identified a large set of plausibly causative mutations for these disorders.
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FitzPatrick, D. Resequencing at scale in neurodevelopmental disorders. Nat Genet 49, 488–489 (2017). https://doi.org/10.1038/ng.3827
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DOI: https://doi.org/10.1038/ng.3827
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