NGS Large-Scale Variant Detection in Autism

Overview

We are conducting a large-scale genomics analysis of next-generation sequencing (NGS) datasets from autism case-control and family data. This will include joint variant calling of up to 6000 exomic datasets from the National Database for Autism Research (NDAR) as well as additional whole-genomes. We are specifically searching for de-novo mutations in carefully controlled population cohorts.

Specific Aims

Once variants are located and validated, we are mapping them onto the existing biological networks including protein-protein interaction (PPI) and gene regulatory networks, supplemented with autism-specific curated network datasets such as SysMed to identify biologically relevant network-level enrichments for future investigation and validation.