Article
A method to build extended sequence context models of point mutations and indels.
Nature communications - 22 Dec 2022
Bethune Jörn, Kleppe April, Besenbacher Søren
Abstract excerpt
The mutation rate of a specific position in the human genome depends on the sequence context surrounding it. Modeling the mutation rate by estimating a rate for each possible k-mer, however, only works for small values of k since the data becomes too sparse for larger values of k. Here we propose a new method that solves this problem by grouping similar k-mers. We refer to the method as k-mer pattern partition...
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