Frequency and spectrum of mutations in human sperm measured using duplex sequencing correlate with trio-based de novo mutation analyses.

doi:10.1038/s41598-024-73587-2

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Frequency and spectrum of mutations in human sperm measured using duplex sequencing correlate with trio-based de novo mutation analyses.

Scientific reports - 8 Oct 2024

Axelsson Jonatan, LeBlanc Danielle, Shojaeisaadi Habiballah, Meier Matthew J, Fitzgerald Devon M, Nachmanson Daniela, Carlson Jedidiah, Golubeva Alexandra, Higgins Jake, Smith Thomas, Lo Fang Yin, Pilsner Richard, Williams Andrew, Salk Jesse, Marchetti Francesco, Yauk Carole

Abstract excerpt

De novo mutations (DNMs) are drivers of genetic disorders. However, the study of DNMs is hampered by technological limitations preventing accurate quantification of ultra-rare mutations. Duplex Sequencing (DS) theoretically has < 1 error/billion base-pairs (bp). To determine the DS utility to quantify and characterize DNMs, we analyzed DNA from blood and spermatozoa from six healthy, 18-year-old Swedish men using...

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Frequency and spectrum of mutations in human sperm measured using duplex sequencing correlate with trio-based de novo mutation analyses.

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