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SFARI Gene

SFARI Gene is an evolving database for the autism research community that is centered on genes implicated in autism susceptibility. The SFARI Gene web portal seamlessly integrates different kinds of genetic data that are being generated by research studies, and in so doing encourages the generation of new hypotheses. 

On 5 December, SFARI Gene was relaunched as SFARI Gene 2.0. This version offers several new features, including intuitive, tab-based investigation for cross-referencing all information on any given gene in the database. Researchers interested in the potential role of a particular gene in autism spectrum disorders (ASD) can access SFARI Gene 2.0 for information in five ways:

Human Gene Module lists more than 284 genes implicated in autism, with annotations and links to the published papers.

Gene Scoring Module, new to SFARI Gene 2.0, offers a critical evaluation of the strength of the evidence for each gene’s association with ASD. Six expert geneticists working on ASD collaborated on this effort, which will be continually updated.

Copy Number Variant Module, also new to SFARI Gene 2.0, provides exhaustive detail on all copy number variants reported in individuals with ASD.

Protein Interaction Module curates all of the protein-protein and protein-nucleic acid interactions reported in the literature for the genes in the Human Gene Module.

Animal Model Module lists more than 288 lines of mice that carry mutations in the genes that populate the Human Gene Module. The animal model list is accompanied by extensive information about each line of mice, including information on the phenotypes of greatest relevance to ASD. New to this module is a list of 'non-genetic' models, which reflect the potential role of environmental risk factors in ASD.

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