Publications by authors named "Jade Zhang"
Innovative and easy-to-implement strategies are needed to improve the pathogenicity assessment of rare germline missense variants. Somatic cancer driver mutations identified through large-scale tumor sequencing studies often impact genes that are also associated with rare Mendelian disorders. The use of cancer mutation data to aid in the interpretation of germline missense variants, regardless of whether the gene is associated with a hereditary cancer predisposition syndrome or a non-cancer-related developmental disorder, has not been systematically assessed.
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- The study explores the link between a repeated genetic sequence (G4C2) in the C9orf72 gene and conditions like familial ALS and FTD.
- Researchers created a new mouse model with 96 copies of the G4C2 repeat to better understand how these repeats can become unstable over generations.
- Two main mechanisms were identified for repeat expansion: minor increases due to a mismatch repair pathway and larger expansions triggered by DNA breaks, with implications for understanding the genetic instability seen in human cases.