SFARI Gene is an evolving online database designed to permit quick entrée into the genetics of autism, and to help researchers track the ever-expanding genetic risk factors that emerge in the literature1,2.
The site provides several ways of accessing data on autism risk genes:
- Human Gene Module: lists 1,231 genes implicated in autism, with annotations and links to published papers.
- Gene Scoring Module: offers critical evaluation of the strength of the evidence for each gene’s association with autism. These gene scores are increasingly being used in the published literature3-11. 418 high-confidence and strong candidate autism risk genes (categories 1-2) have so far been identified.
- Copy Number Variant (CNV) Module: lists 17 recurrent CNV loci reported in individuals with autism.
- Mouse Models Module: lists 1,353 mouse lines including genetic models, inbred lines, models induced by biological or chemical agents and rescue lines.
Several changes have been implemented to SFARI Gene as of December 2019. Please read here for more information.
- Abrahams B.S. et al. Mol. Autism 4, 36 (2013) PubMed
- Banerjee-Basu S. and A. Packer Dis. Model Mech. 3, 133-135 (2010) PubMed
- Wang T. et al. Hum. Mol. Genet. 21, 5500-5510 (2012) PubMed
- Parikshak N.N. et al. Cell 155, 1008-1021 (2013) PubMed
- Jacquemont S. et al. Am. J. Hum. Genet. 94, 415-425 (2014) PubMed
- Toma C. et al. Mol. Psychiatry 19, 784-790 (2014) PubMed
- Sugathan A. et al. Proc. Natl. Acad. Sci. USA 111, E4468-4477 (2014) PubMed
- Griswold A.J. et al. Mol. Autism 6, 43 (2015) PubMed
- Strong E. et al. Am. J. Hum. Genet. 97, 216-227 (2015) PubMed
- Wilkinson B. et al. Transl. Psychiatry 5, e568 (2015) PubMed
- Yao P. et al. Nat. Neurosci. 18, 1168-1174 (2015) PubMed