Article

Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans

2017-02-14

Abstract excerpt

A detailed understanding of the genome-wide variability of single-nucleotide germline mutation rates is essential to studying human genome evolution. Here we use ∼36 million singleton variants from 3,560 whole-genome sequences to infer fine-scale patterns of mutation rate heterogeneity. Mutability is jointly affected by adjacent nucleotide context and diverse genomic features of the surrounding region, including h...

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Literature Corpus work: b3ff107f-d877-50d9-86e8-fb4a7ad7a747
DOI: 10.1101/108290

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