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SFARI Gene: October 2020 Data Release

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.

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 October 2020.

Some of the highlights of this data release include:

  • 32 new genes were added to the Human Gene module, bringing the total number to 1,220. Noteworthy new genes include CNOT1, SORCS3 and CSNK2A1.
  • Eight of these new genes were added to category 2 (strong candidate genes) of the Gene Scoring module. All of the other new genes were assigned scores in either the 3 (suggestive evidence) or 3S (suggestive evidence for ASD risk and syndromic) categories.
  • A total of nine newly curated references and 29 individual case records were added to the Copy Number Variant (CNV) module, resulting in a total of 643 curated references.
  • The Mouse Models module was updated with data from 11 publications. This included new studies of mouse models for the following autism risk genes: Auts21, Cttnbp22 and Tcf203.

More detailed information is available here.

Reference

  1. Hori K. et al. iScience 3, 101183 (2020) PubMed ↩︎
  2. Feng C. et al. EMBO Rep. 21, e49239 (2020) PubMed ↩︎
  3. Shih P.Y. et al. Cell Rep. 31, 107700 (2020) PubMed ↩︎

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