In collaboration with the Simons Foundation, scientists at MindSpec co-authored an article in Molecular Autism describing the new Gene Scoring module of SFARI Gene.

SFARI Gene is the name by which the Simons Foundation licenses MindSpec’s Autism Database (AutDB), the first genetic database for autism.  First released in 2007, AutDB catalogs all known genetic variants linked to autism, including both rare and common forms.  AutDB was designed with a systems biology approach, linking the original Human Gene module with corresponding data in the subsequent Animal Model, Protein Interaction (PIN), and Copy Number Variant (CNV) modules.  AutDB content grows rapidly, and as of September 2013, it contains information pertaining to 573 genes.

To prioritize this vast amount of genetic information related to autism, the Simons Foundation initiated development of an additional module for SFARI Gene called Gene Scoring.  This new module acts as a systematic, community-driven tool for ranking strength of evidence for autism candidate genes.  It features two components:  1) gene scores assigned by a panel of scientific experts in the field of autism genetics, and 2) gene scores submitted by the autism research community at large, in a Wikipedia-like format.  Each component is guided by defined scoring criteria and includes written justification by the scorers.

The scientific journal Molecular Autism recently published a full description of the Gene Scoring module.  This report details key features of the Gene Scoring module, including user interface and functionalities, as well as current statistics for autism gene rankings.  For instance, according to the scoring criteria, more than half of all known autism-linked genes were assigned a score of “Minimal Evidence.”  Together, the Gene Scoring module is envisioned as a powerful tool by which the scientific community can prioritize the direction of autism research.


October 2013