Article
A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome.
Genome research - 1 Aug 2020
Gao Fan, Pan Xuedong, Dodd-Eaton Elissa B, Recio Carlos Vera, Montierth Matthew D, Bojadzieva Jasmina, Mai Phuong L, Zelley Kristin, Johnson Valen E, Braun Danielle, Nichols Kim E, Garber Judy E, Savage Sharon A, Strong Louise C, Wang Wenyi
Abstract excerpt
De novo mutations (DNMs) are increasingly recognized as rare disease causal factors. Identifying DNM carriers will allow researchers to study the likely distinct molecular mechanisms of DNMs. We developed Famdenovo to predict DNM status (DNM or familial mutation [FM]) of deleterious autosomal dominant germline mutations for any syndrome. We introduce Famdenovo.TP53 for Li-Fraumeni syndrome (LFS) and analyze 324...
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