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.