SFARI Gene: July 2020 Data Release

August 10, 2020

New data were recently added to SFARI Gene. This data release included the addition of new genes associated with autism risk, new curated references of copy number variations associated with autism and new mouse models of autism.

Autism Research Initiative (SFARI)

Colorful chromosomes spill out from a larger, multicolored sphere against a black background, representing a cell and its genetic material seen under a microscope. — Thomas Ried, NCI/Science Source Thomas Ried, NCI/Science Source

New data were added to SFARI Gene in July 2020.

Some of the highlights of this data release include:

17 new genes were added to the Human Gene module, bringing the total number to 1,188. In-depth annotation of 584 rare variants and 1,334 common variants was also completed, and 74 new references were added. Noteworthy new genes include: ACTL6B, NOVA2 and SETD1A.
No new genes were added to Categories 1 and 2 (high confidence and strong candidate gene categories, respectively) of the Gene Scoring module. All of the new genes were assigned scores in either the S (syndromic), 3 (suggestive evidence) or 3S categories.
A total of 7 newly curated references and 43 individual case records were added to the Copy Number Variant (CNV) module, resulting in a total of 634 curated references.
The Mouse Models module was updated with data from a total of 11 references. Mouse models derived from new risk genes include: Actl6b, Nr2f1, Rab39b and Sybu.