Article
Genetic and chemotherapeutic influences on germline hypermutation.
Nature - 1 May 2022
Kaplanis Joanna, Ide Benjamin, Sanghvi Rashesh, Neville Matthew, Danecek Petr, Coorens Tim, Prigmore Elena, Short Patrick, Gallone Giuseppe, McRae Jeremy, Carmichael Jenny, Barnicoat Angela, Firth Helen, O'Brien Patrick, Rahbari Raheleh, Hurles Matthew
Abstract excerpt
Mutations in the germline generates all evolutionary genetic variation and is a cause of genetic disease. Parental age is the primary determinant of the number of new germline mutations in an individual's genome1,2. Here we analysed the genome-wide sequences of 21,879 families with rare genetic diseases and identified 12 individuals with a hypermutated genome with between two and seven times more de novo...
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