Article

A method to build extended sequence context models of point mutations and indels

2021-12-07

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 using IUPAC patterns. We refer to the method as k-mer...

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Literature Corpus work: e5b395bf-3777-5175-acc3-48f17ba0572e
DOI: 10.1101/2021.12.06.471476

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