Human de novo mutation rates from a four-generation pedigree reference.

doi:10.1038/s41586-025-08922-2

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Article

Human de novo mutation rates from a four-generation pedigree reference.

Nature - 1 Jul 2025

Porubsky David, Dashnow Harriet, Sasani Thomas A, Logsdon Glennis A, Hallast Pille, Noyes Michelle D, Kronenberg Zev N, Mokveld Tom, Koundinya Nidhi, Nolan Cillian, Steely Cody J, Guarracino Andrea, Dolzhenko Egor, Harvey William T, Rowell William J, Grigorev Kirill, Nicholas Thomas J, Goldberg Michael E, Oshima Keisuke K, Lin Jiadong, Ebert Peter, Watkins W Scott, Leung Tiffany Y, Hanlon Vincent C T, McGee Sean, Pedersen Brent S, Happ Hannah C, Jeong Hyeonsoo, Munson Katherine M, Hoekzema Kendra, Chan Daniel D, Wang Yanni, Knuth Jordan, Garcia Gage H, Fanslow Cairbre, Lambert Christine, Lee Charles, Smith Joshua D, Levy Shawn, Mason Christopher E, Garrison Erik, Lansdorp Peter M, Neklason Deborah W, Jorde Lynn B, Quinlan Aaron R, Eberle Michael A, Eichler Evan E

Abstract excerpt

Understanding the human de novo mutation (DNM) rate requires complete sequence information1. Here using five complementary short-read and long-read sequencing technologies, we phased and assembled more than 95% of each diploid human genome in a four-generation, twenty-eight-member family (CEPH 1463). We estimate 98-206 DNMs per transmission, including 74.5 de novo single-nucleotide variants, 7.4 non-tandem repeat...

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Identifiers

PMID: 40269156
DOI: 10.1038/s41586-025-08922-2
PMCID: PMC12240836

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