Cell Genomics· 2026Q1
Multi-platform framework for mapping somatic retrotransposition in human tissues
- 3citations
- Q1SCImago
- 2026year
Short summary
A new integrative framework using long-read and MEI-targeted sequencing, combined with haplotype phasing and donor-specific assemblies, enables ultra-low-frequency somatic retrotransposition event detection in human tissues.
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Key points
- Developed an integrative framework for detecting ultra-low-frequency somatic retrotransposition events (sMEIs).
- Demonstrated advantages of long-read and MEI-targeted sequencing for sMEI detection using cell line mixtures.
- Haplotype phasing and donor-specific assemblies improve sMEI detection accuracy in silico.
- Identified 18 rare somatic L1 insertions in donor tissues, showing structural and source diversity.
AI-generated from the title and abstract; the full text is not read.
Abstract
Mobile element insertions (MEI) shape the human genome in both germline and somatic tissues. While inherited MEIs are well characterized, mapping somatic MEIs (sMEI) in non-cancer tissues remains challenging due to their low allelic fraction and repetitive nature. We established an integrative framework for sMEI analysis leveraging modern sequencing technologies and analytical innovations. We first benchmarked sMEI detection and demonstrated advantages of long-read and MEI-targeted sequencing for ultra-low-frequency events using a mixture of well-established cell lines. We then showed that haplotype phasing and donor-specific assemblies refine sMEI detection, effectively distinguishing from germline and false signals in in-silico tumor-normal mixtures. We further developed a source-tracing strategy based on internal sequence variation, expanding the catalogue of active source elements beyond traditional transduction-based methods. Applying this framework to donor tissues, we identified 18 rare somatic L1 insertions, revealing structural and source diversity. Our work provides a foundational framework and biological insight into sMEIs.
The authors' abstract, as published at the source. Cell Genomics, 2026 · DOI ↗
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