Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

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Evidence for the etiology of autism spectrum disorders (ASDs) has consistently pointed to a strong genetic component complicated by substantial locus heterogeneity. We sequenced the exomes of 20 individuals with sporadic ASD (cases) and their parents, reasoning that these families would be enriched...

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Main Authors: O'Roak, B, Deriziotis, P, Lee, C, Vives, L, Schwartz, J, Girirajan, S, Karakoc, E, MacKenzie, A, Ng, S, Baker, C, Rieder, M, Nickerson, D, Bernier, R, Fisher, S, Shendure, J, Eichler, E
Format: Journal article
Language:English
Published: 2011

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