Human Autism Genetics and Activity Dependent Gene Activation
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The goal of this proposal is to bring together the power of 1) whole exome sequencing, 2) homozygosity mapping in consanguineous families, 3) genome-wide maps of neuronal transcription in response to neuronal activity, and 4) genome-wide maps of the binding sites of factors that regulate this transcription to generate and annotate a catalog of ASD-associated variants. The consanguineous families are already enrolled in research, and have been phenotyped. The neuronal transcription and binding site maps will be developed by the Greenberg Lab at Harvard Medical School. The whole exome sequencing will be done at the Broad Institute, and the Walsh lab at Children's Hospital will validate the results and analyze the variant data.