Article

Direct identification of <i>de novo</i> mobile element insertions from single molecule sequencing of human sperm

2025-10-26

Abstract excerpt

Mobile element insertions (MEIs) are a significant source of human genetic variation, yet the rates and properties of de novo MEIs are poorly characterized due to technical limitations in sequencing technology. Here, we directly sequenced individual gametes from sperm samples of 14 donors (aged 28-62) using highly accurate PacBio long-read sequencing to identify de novo retrotransposition events without familial...

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Literature Corpus work: c76c155b-bbc6-5f47-a497-ec52c6c37287
DOI: 10.1101/2025.10.25.684559

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