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Long-read sequencing reveals pre-meiotic gene conversion in sperm

Nature Bioinformatics AI Regev Schweiger, Sangjin Lee, Chenxi Zhou, Tsun-Po Yang, Stacy Li, Rashesh Sanghvi, Matthew Neville, Katie Smith, Kirsty Roberts, Ayrun Nessa, Sam Wadge, Kerrin S. Small, Peter J. Campbell, Kristian Almstrup, Peter H. Sudmant, Raheleh Rahbari, Richard Durbin 2026-08-26

TL;DR - Single-molecule long-read sequencing of human sperm reveals donor-level variation in recombination and indicates that many non-crossover gene conversions occur before meiosis. This distinguishes them from PRDM9-driven meiotic recombination and links them to fragile genomic sites.

  • Profiles recombination directly in human sperm using single-molecule long-read sequencing.
  • Finds that recombination patterns vary across donors.
  • Shows that a substantial fraction of non-crossover gene conversions arise pre-meiotically.
  • Associates these events with fragile sites rather than PRDM9-driven recombination.

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