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Functional Screen of Autism-Associated Variants Request for Applications
Grants awarded through this RFA were intended to advance our understanding of the genetic basis of autism, and in particular the potential role of missense and in-frame deletion variants in conferring risk. Data to be analyzed under this RFA came in part from the exome sequencing of more than 2,500 families from the Simons Simplex Collection (SSC). The program sought proposals for the development and application of medium- or high-throughput screens to test for the functional effects of missense and in-frame deletion variants identified in the SSC and other autism collections. One key goal was to compare the impact of variants when inherited in individuals with autism versus unaffected siblings or controls, to support a case for particular genes in autism susceptibility. The initial funding period provided a one-year pilot up to $250,000 including 20 percent of the modified total direct costs, beginning August 1, 2015. A subset of selected pilots were awarded an additional two years of funding.
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.