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Data has been deposited at the European Genome-phenome Archive (EGA), which is hosted by the EBI and the CRG, under accession number phs003603. Further information about EGA can be found at https://ega-archive.org and "The European Genome-phenome Archive of human data consented for biomedical research"

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Exome Sequencing in an Ancestrally Diverse Autism Cohort

Autism spectrum disorder (ASD) is a collection of neurodevelopmental disorders manifested by impaired social communication, repetitive behaviors, and restricted interests. We performed whole exome sequencing (WES) on a total of 754 individuals from 195 families, including 222 probands with ASD, from diverse ancestral backgrounds. We identified potentially pathogenic variants in known and novel ASD or neurodevelopmental disease genes.

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