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SFARI Gene release notes for Q2 2019

June 20, 2019

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

Human Gene module

A total of 10 new genes were added to the Human Gene module, bringing the total number to 1089. In depth annotation of 436 rare variants and 10 common variants was also completed, and 73 new references were added. Noteworthy genes added include:

Gene Scoring module

Updated scores, and a new, simplified scoring system will be unveiled in the fall of 2019.

Copy Number Variant (CNV) module

A total of 5 newly curated references and 52 individual case records were added to the CNV module, resulting in a total of 609 curated references and 2,291 CNV loci.

Animal Models module

The mouse module was updated with data from a total of 10 references. Mouse models derived from two new genes, IQSEC1 and TRIO, and one new CNV, 3q29, were added to the database. Several high confidence genes, including SHANK3, DYRK1A, and SCN2A, have been updated with new mouse models and/or new phenotypic data. Additional models of maternal immune activation were also added.

The rat module was updated with six new models extracted from three recent publications. Additionally, an existing maternal immune activation model was updated with new information

Mouse model annotation highlights include:

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