SFARI Gene: New data release

Thomas Ried, NCI/Science Source

New data were added to SFARI Gene in January 2019.

Some of the highlights of this data release include:

  • 17 new genes were added to the Human Gene module, bringing the total number to 1,053. In-depth annotation of 583 rare variants and 16 common variants was also completed, and 120 new references were added.

  • One gene (CNOT3) was upgraded from Category 3 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 87.

  • Twelve genes (AGO1, ASAP2, CCNG1, CDH13, GALNT8, ICA1, KDM4C, KIF14, MIR137, NCOR1, NUDCD2 and PAK2) were directly added or upgraded to Category 3, bringing the total number of genes with suggestive evidence for a role in autism to 195.

  • 11 novel copy number variant (CNV) loci were added to the CNV module, resulting in a total of 2,285 CNV loci.

  • The animal models dataset has been updated as follows:

    • Mouse models: 33 new models and 54 new rescue models were added, as well as updated annotations on 8 existing models.

    • Rat models: 15 new models and 11 rescue models were added, as well as updated annotations on 3 existing models.

More detailed information is available here.

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