Article

Population sequencing data reveal a compendium of mutational processes in human germline

2020-01-11

Abstract excerpt

Mechanistic processes underlying human germline mutations remain largely unknown. Variation in mutation rate and spectra along the genome is informative about the biological mechanisms. We statistically decompose this variation into separate processes using a blind source separation technique. The analysis of a large-scale whole genome sequencing dataset (TOPMed) reveals nine processes that explain the variation i...

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Literature Corpus work: d07e4e3c-3c97-5c2d-99fd-c730402ba168
DOI: 10.1101/2020.01.10.893024

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