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

ABSTRACT: 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 inference. We developed a "self-alignment" strategy using personal genome assemblies that enables high-precision, single-read detection of de novo MEIs. Using this method, we identified 51 de novo Alu insertions, revealing 7-fold variation in Alu retrotransposition rates between individuals (0.023 to 0.17 insertions/gamete). We found a significant increa

SUBMITTER: Li S 

PROVIDER: S-EPMC12633430 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature