Autistic Disorder study with SNP/CNV Genotypes (NGS) data on dbGaP (9,945 participants)

phs001874 — Noncoding, Regulatory Mutations in Neurodevelopmental Disorders

<p>This dbGaP study contains variant call files generated from whole-genome sequencing data of families with autism. The variant callers include FreeBayes, GATK, Platypus, and Strelka2. A family-level VCF file, from each caller, is provided for each family in the study. The families included in this study are from the Simons Simplex Collection (SSC), the Study of Autism Genetics Exploration (SAGE), and The Autism Simplex Collection (TASC); sequencing was performed at the New York Genome Center, as part of the <a href="http://ccdg.rutgers.edu/"> Centers for Common Disease Genomics (CCDG) Consortium</a>. The analysis to generate the variant callsets was supported by a K99 Pathway to Independence grant to Dr. Tychele Turner (1K99MH117165-01).</p> <p>*Access to phenotype data at the individual level for Simons Simplex Collection (SSC) subjects can be requested from SFARI Base: <a href="https://www.sfari.org/resource/sfari-base/">https://www.sfari.org/resource/sfari-base/</a>.</p>