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Article

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

Nature communications - 14 Sept 2018

Carlson Jedidiah, Locke Adam E, Flickinger Matthew, Zawistowski Matthew, Levy Shawn, Myers Richard M, Boehnke Michael, Kang Hyun Min, Scott Laura J, Li Jun Z, Zöllner Sebastian

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 3560 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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 30218074
DOI: 10.1038/s41467-018-05936-5
PMCID: PMC6138700

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