Mutation Rate Variations in the Human Genome are Encoded in DNA Shape

Abstract excerpt

Single nucleotide mutation rates have critical implications for human evolution and genetic diseases. Accurate modeling of these mutation rates has long remained an open problem since the rates vary substantially across the human genome. A recent model, however, explained much of the variation by considering higher order nucleotide interactions in the local (7-mer) sequence context around mutated nucleotides. Desp...

Topics

Open a Topic to create a Post that cites this publication.

• DNA
• Genome, Human
• Genomics
• Mutation
• Mutation Rate
• Nucleotides
• Replication Origin
• Transcription Initiation Site

Identifiers and source

Literature Corpus work

ce721e68-662d-5d68-b27e-072dda13856b

DOI

10.1101/2021.01.15.426837