Human Autism Genetics

The goal of this study is to bring together the power of 1) whole exome sequencing, 2) homozygosity mapping in consanguineous families, and 3) transcriptional analysis in brain tissue to identify genetic causes of autism spectrum disorders (ASD). ]]>
Version 1 of this study included whole exome sequencing data from probands and affected and unaffected family members from consanguineous and non-consanguineous families. Version 2 adds single-nucleus RNA-sequencing of post-mortem frontal cortex and cerebellum samples from individuals diagnosed with Fragile X-associated tremor/ataxia syndrome (FXTAS). Version 3 adds single-nucleus RNA-sequencing and multi-omic sequencing on dup15q cases to study the cell-type-specific effects of autism-associated chromosome 15q11.2-13.1 duplications in human brain.]]>