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Thomas Ried, NCI/Science Source
New data were added to SFARI Gene in January 2019.
Some of the highlights of this data release include:
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- 17 new genes were added to the Human Gene module, bringing the total number to 1,053. In-depth annotation of 583 rare variants and 16 common variants was also completed, and 120 new references were added.
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- One gene (CNOT3) was upgraded from Category 3 to Category 2 of the Gene Scoring module. This brings the total number of autism-risk genes with strong evidence (i.e., Categories 1 and 2 ranked genes) to 87.
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- 11 novel copy number variant (CNV) loci were added to the CNV module, resulting in a total of 2,285 CNV loci.
- The animal models dataset has been updated as follows:
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- Mouse models: 33 new models and 54 new rescue models were added, as well as updated annotations on 8 existing models.
- Rat models: 15 new models and 11 rescue models were added, as well as updated annotations on 3 existing models.
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More detailed information is available here.
