Whole-Genome Analysis for Autism Risk Variants — Request for Applications

Grants awarded through this RFA were intended to advance our understanding of the genetic basis of autism, and in particular, to begin to assess genetic variants conferring risk in non-coding regions and in coding regions of the genome that may be less accessible to whole-exome sequencing. The program partnered with the New York Genome Center to sequence whole-genomes from 500 Simons Simplex Collection quartet families (2,000 genomes at 30X sequence coverage). Investigators were encouraged to develop innovative and efficient ways to analyze whole-genome sequencing data to identify de novo and inherited mutations, CNVs not identified by WES, non-coding variants associated with autism risk, and mitochondrial DNA variants. The program particularly sought multidisciplinary approaches and collaborations between investigators with complementary expertise in analyzing large genomic datasets.