SFARI Gene release notes for Q1 2020

April 28, 2020

*Notes prepared by Eric Larsen, Senanu Spring-Pearson, Anjali Sarkar, Girish Nagendara, and Sharmila Banerjee-Basu of MindSpec, Inc., and edited by Alan Packer of SFARI.

Human Gene module

A total of 30 new genes were added to the Human Gene module, bringing the total number to 1171. In depth annotation of 641 rare variants and 1331 common variants was also completed, and 74 new references were added. Noteworthy genes added include:

Gene Scoring module

Criteria for genes in category 1 have been revised to include both genes on the SPARK list and genes that pass the false discovery rate of 0.1 in the new paper by Satterstrom et al. Cell 180, 1-17 (2020).

Copy Number Variant (CNV) module

A total of 8 newly curated references and 292 individual case records were added to the CNV module, resulting in a total of 619 curated references.

Animal Models module

The mouse module was updated with data from a total of 10 references. Mouse models derived from notable risk genes included Cntnap2, Pten, Fmr1, Cul3, Pogz, Scn1a, MeCP2, and Shank3

Mouse model annotation highlights include:

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