SFARI Gene: New data release

Thomas Ried, NCI/Science Source

New data were added to SFARI Gene in November 2018.

Some of the highlights of this data release include:

  • 17 new genes were added to the Human Gene module, bringing the total number to 1,036. In-depth annotation of 379 rare variants and 10 common variants was also completed, and 105 new references were added.
  • No new genes were added to Categories 1 and 2 of the Gene Scoring module, thus, the total number of autism-risk genes with strong evidence remains at 86.
  • Five genes (CPEB4, GABRG3, MYH10, SLITRK5 and ST8SIA2) were added to Category 3, bringing the total number of genes with suggestive evidence for a role in autism to 184.
  • 26 novel copy number variant (CNV) loci were added to the CNV module, resulting in a total of 2,276 CNV loci.
  • The animal models dataset has been updated as follows:
    • Mouse models: 33 new models and 23 new rescue models were added, as well as updated annotations on 11 existing models.
    • Rat models: 15 new models and 19 rescue models were added, as well as updated annotations on 7 existing models.
    • Zebrafish models: 7 new models and 1 new rescue model were added.
    • Drosophila models: 34 new models and 8 new rescue models were added.

More detailed information is available here.

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