SFARI Gene: New data release

Thomas Ried, NCI/Science Source

New data were added to SFARI Gene in April 2019.

Some of the highlights of this data release include:

  • 26 new genes were added to the Human Gene module, bringing the total number to 1,079. In-depth annotation of 700 rare variants and 9 common variants was also completed, and 63 new references were added.

  • Four genes (CEP41, MACROD2, NCOR1, SET) were directly added or upgraded to Category 2 of the Gene Scoring module. This brings the total number of autism-risk genes with strong evidence (i.e., Categories 1 and 2 ranked genes) to 91.

  • Nine genes (AGO4, CASZ1, DLX3, KCNS3, NFE2L3, RALGAPB, SNX5, SPEN,  WDFY4) were directly added or upgraded to Category 3, bringing the total number of genes with suggestive evidence for a role in autism to 202.

  • One novel copy number variant (CNV) loci (4q31.21-q33) was added to the CNV module, resulting in a total of 2,286 CNV loci.

  • The animal models dataset has been updated as follows:

    • Mouse models: 42 new genetic models, including 21 new rescue models, were added.

    • Rat models: 8 new models, including 4 rescue models, were added.

More detailed information is available here.

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