SFARI Gene: New data release

Thomas Ried, NCI/Science Source

New data were added to SFARI Gene in August 2018.

Some of the highlights of this data release include:

  • A total of 12 new genes were added to the Human Gene module, bringing the total number to 1,019. In-depth annotation of 291 rare variants and 4 common variants was also completed, and 101 new references were added.
  • Two genes (CUX1 and LEO1) were added to Category 2 of the Gene Scoring module. This brings the total number of autism-risk genes with strong evidence (ie., Categories 1 and 2 ranked genes) to 86.
  • Four genes (APBB1, BTAF1, RAI1 and TANC2) were added to Category 3, bringing the total number of genes with suggestive evidence for a role in autism to 179.
  • Eight novel copy number variant (CNV) loci were added to the CNV module, resulting in a total of 2,250 CNV loci.
  • The animal models dataset has been updated as follows:
    • Mouse models: 27 new models and 32 new rescue models were added, as well as updated annotations on 10 existing models.
    • Rat models: 6 new models and 6 rescue models were added, as well as updated annotations on 3 existing models.
    • Zebrafish models: 44 new models and 37 new rescue models were added.
    • Drosophila models: 53 new models and 38 new rescue models were added.

More detailed information is available here.

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