A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome
Fan Gao, Xuedong Pan, Elissa B. Dodd-Eaton, Carlos Vera Recio, Matthew D. Montierth, Jasmina Bojadzieva, Phuong L. Mai, Kristin Zelley, Valen E. Johnson, Danielle Braun, Kim E. Nichols, Judy Ellen Garber, Sharon A. Savage, Louise C. Strong, Wenyi Wang
The paper introduces Famdenovo, a model to predict de novo mutations in families with Li-Fraumeni syndrome, identifying 40 new carriers and showing high prediction accuracy.
Genome Research · Aug 1, 2020Peer-reviewedGenetics