SFARI Gene: New data release

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.

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