Genomic Analysis for Autism Risk Variants in SPARK – Request for Applications

SPARK (Simons Foundation Powering Autism Research) is an autism research initiative that aims to recruit, engage and retain a community of 50,000 individuals with autism and their family members living in the U.S. Participation in this cohort involves contribution of medical and behavioral information, mailing in of saliva for genetic analysis, the option to have genetic findings related to autism returned, and consent to be invited to participate in future research studies.

This request for applications sought proposals that will advance our understanding of the genetic basis of autism using data from SPARK. SFARI welcomed proposals that focus on any type of genetic variants (rare and common variants, single-nucleotide variants (SNVs), copy number variants (CNVs), indels, coding and noncoding variants) that contribute to autism risk. We encouraged innovative applications that combine analyses of variants across the allele frequency spectrum. We prioritized proposals that analyzed SPARK data in conjunction with available genomic data from other ASD and neurodevelopmental genetic cohorts.

SFARI made the alignment and variant call data available to all eligible researchers (i.e., not only those funded through this RFA) following standard quality control and data processing steps.

SFARI worked with successful applicants to make the genomic data available to their academic or cloud-based computing resources. SFARI understood that validation of de novo variants in recurrent genes/pathways is a key aspect of this project and coordinated experimental confirmation of de novo calls with awardees.