SFARI Gene: New Data Release

New data were recently added to SFARI Gene. This data release included the addition of new genes and copy number variant loci associated with autism. New mouse and rat models were also added.

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Thomas Ried, NCI/Science Source

 

New data were added to SFARI Gene in June 2019.

Some of the highlights of this data release include:

    • 10 new genes were added to the Human Gene module, bringing the total number to 1,089. In-depth annotation of 436 rare variants and 10 common variants was also completed, and 73 new references were added.

 

    • No new genes were added to Categories 1 and 2 of the Gene Scoring module. Thus, the total number of autism-risk genes with strong evidence remains at 91.

 

    • Five novel copy number variant (CNV) loci were added to the CNV module, resulting in a total of 2,291 CNV loci.

 

  • The animal models dataset has been updated as follows:
      • Mouse models: 7 new genetic models, including 1 new rescue model, were added; 3 new induced models, including 1 rescue model, were also added.

     

    • Rat models: 6 new models, including 4 rescue models, were added.

More detailed information is available here.