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

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

Abstract 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 utili...

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Bibliographic Details
Main Authors: Jonatan Axelsson, Danielle LeBlanc, Habiballah Shojaeisaadi, Matthew J Meier, Devon M. Fitzgerald, Daniela Nachmanson, Jedidiah Carlson, Alexandra Golubeva, Jake Higgins, Thomas Smith, Fang Yin Lo, Richard Pilsner, Andrew Williams, Jesse Salk, Francesco Marchetti, Carole Yauk
Format: Article
Language:English
Published: Nature Portfolio 2024-10-01
Series:Scientific Reports
Subjects:
Sperm DNA mutations
De novo mutations
Mutation frequency
Mutational spectrum
Extrachromosomal circular DNA
Duplex sequencing
Online Access:https://doi.org/10.1038/s41598-024-73587-2
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https://doi.org/10.1038/s41598-024-73587-2

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