2025年1月13日 · SFARI Gene is an evolving database for the autism research community that is centered on genes implicated in autism susceptibility. The Human Gene module provides researchers around the world with instant access to the most up-to-date information on all known human genes associated with autism spectrum disorders (ASD).

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 literature 1,2.

The User Guide is designed to acquaint new users with SFARI Gene, an integrated resource for autism research, and provide them with a quick and efficient pathway to the information about ASD-candidate genes that’s most pertinent to their work.

2025年1月13日 · The Human Gene module of SFARI Gene serves as a comprehensive, up-to-date reference for all known human genes associated with autism spectrum disorders.

2013年10月3日 · Described here is the Gene Scoring module within SFARI Gene 2.0 (https://gene.sfari.org/autdb/GS_Home.do), a platform developed to enable systematic community driven assessment of genetic evidence for individual genes with regard to ASD.

2024年9月13日 · The database now includes 1,416 autism-associated genes, with 44 new genes and more than 3,000 variants added in 2023. Looking toward the future, Basu discussed ways SFARI Gene might help close the gap between genetic diagnoses for autism and clinical management, with a key need being curation and standardization of genotype/phenotype data.

2021年12月10日 · The Simons Foundation Autism Research Initiative (SFARI) is pleased to announce the inclusion of an additional gene scoring metric in SFARI Gene, SFARI’s compendium of information about genes implicated in autism spectrum disorder (ASD).

Our advanced search function allows users to look for specific genes, scores, CNVs, protein interactions, and more. With this tool, you can search and filter the data contained in every SFARI Gene module, including information from individual reports curated by our researchers.

Experimental animals carrying genetic mutations that have been implicated in autism susceptibility provide an essential platform for studying how such mutations might affect brain development. SFARI Gene hosts contains a comprehensive, annotated list of animal models, along with summaries of their accompanying phenotypes.

In summary, key strengths of SFARI Gene 2.0 include explicitly defined scoring criteria, continuous updates and infrastructure to permit community based involvement.