dbGaP Collection: NIH Autism -omics Studies

Autism Spectrum Disorders (ASD) are early onset neurodevelopmental syndromes characterized by impairments in reciprocal social interaction and communication, accompanied by restricted and repetitive behaviors. ASDs afflict ~1% of the human population, and represent a major public health burden. Evidence for the etiology of ASD has consistently pointed to a strong genetic component, though the genetic architecture is indisputably complex. This dbGaP Collection consists of studies that include GWAS, sequencing (targeted, exome, whole genome), transcriptomics, etc, across many different cohorts. Many of the datasets have been curated and harmonized with NDAR prior to submission to dbGaP. Researchers who request and are approved to access this collection will be granted access to all related substudies in dbGaP as well as all NDAR data. Individual level genomics data will only be available for download through dbGaP along with minimal phenotype and pedigree information. Detailed phenotype and available imaging data related to these same research subjects are available for query and download within NDAR. The NDAR GUID will allow individual genomic data to be associated with all NDAR data collected for those subjects.]]>
In 2006, Congress enacted the "Combating Autism Act of 2006," http://www.gpo.gov/fdsys/pkg/PLAW-109publ416/pdf/PLAW-109publ416.pdf. One of the main directives in this law was to improve coordination of autism-related research activities. As part of this effort, NIH established the National Database for Autism Research (NDAR). NDAR was developed to share data across the entire autism research field and to facilitate collaboration across laboratories, as well as interconnectivity with other informatics platforms. This community-wide sharing requires a common subject identifier, common data and experiment definitions, as well as comprehensive and coherent informatics approaches. All of the substudies described in this study also have linked data contained in NDAR. This collection was established in order to facilitate access to all -omics studies of autism, including NDAR, through a single access request.]]>