Article
Regularized sequence-context mutational trees capture variation in mutation rates across the human genome.
PLoS genetics - 1 Jul 2023
Adams Christopher J, Conery Mitchell, Auerbach Benjamin J, Jensen Shane T, Mathieson Iain, Voight Benjamin F
Abstract excerpt
Germline mutation is the mechanism by which genetic variation in a population is created. Inferences derived from mutation rate models are fundamental to many population genetics methods. Previous models have demonstrated that nucleotides flanking polymorphic sites-the local sequence context-explain variation in the probability that a site is polymorphic. However, limitations to these models exist as the size of...
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