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SFARI Gene: January 2021 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 January 2021.

Some of the highlights of this data release include:

  • 11 new genes were added to the Human Gene module, bringing the total number to 1,231. Noteworthy new genes include: AGO2, MSL3 and PHF7.
  • Five of these new genes were added to Category 2 (strong candidate genes) of the Gene Scoring module, and two were assigned to Category 2S (strong candidate gene and syndromic). All of the other new genes were assigned scores in Category 3 (suggestive evidence).
  • Six previously scored genes were reassigned scores in Category 1 (high confidence genes): PAH, SMARCA4, and SYN1, or Category 1S (high confidence genes and syndromic): CSNK2A1, MEF2C and SETD1A.
  • A total of 11 newly curated references and 82 individual case records were added to the Copy Number Variant (CNV) module, resulting in a total of 654 curated references.
  • The Mouse Models module was updated with data from 10 publications. This included new studies of mouse models for the following autism risk genes: Chd81, Nbea2, Nlgn33 and Shank34.

More detailed information is available here.

Reference

  1. Jiménez J.A. et al. Mol. Autism 11, 74 (2020) PubMed ↩︎
  2. Muellerleile J. et al. Sci. Rep. 10, 16058 (2020) PubMed ↩︎
  3. Matta S.M. et al. Sci. Rep. 10, 14492 (2020) PubMed ↩︎
  4. Vitrac A. et al. Sci. Rep. 10, 13315 (2020) PubMed ↩︎

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