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Scoring

Curation

SFARI Gene curates genes associated with ASD, including both rare mutations and common variants. With the increase in the number of genes potentially linked to ASD, it's necessary to evaluate the strength of the evidence linking a gene to the disorder. The Gene Scoring initiative was launched by the Simons Foundation to assess ASD candidate genes based on a set of standardized annotation rules.

The gene assessment results are compiled into Gene Score Cards that show both the scores assigned to an ASD-linked gene and the evidence supporting its inclusion in the database. The founding members of this initiative include Alan Packer of the Simons Foundation and Sharmila Banerjee Basu of MindSpec Inc.

An expert panel of six advisors joined efforts to define the annotation criteria and to assess the first 203 genes curated in SFARI Gene. External panel members include Brett Abrahams, Dan Arking, Dan Campbell, Heather Mefford, Eric Morrow, and Lauren Weiss.

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