Cell

DNA methods appear complementary in human cells and tissues

Benchmarks using human cell lines and donor tissues produced data for nine samples and suggested that three DNA analysis approaches offer complementary information.

Paper by Somatic Mosaicism across Human Tissues Network. Electronic address: abyzov.alexej@mayo.edu, Somatic Mosaicism across Human Tissues Network
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Graphical abstract. Somatic Mosaicism across Human Tissues Network. Electronic address: abyzov.alexej@mayo.edu et al.
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In human cell lines—cells maintained in the lab—and donor tissues, researchers ran benchmarking experiments to compare methods for detecting somatic mutations, DNA changes acquired by individual cells. They generated extensive DNA sequencing data, which record the order of DNA’s building blocks, for nine analysed samples.

The team compared six duplex technologies, which check both strands of DNA. Sequencing individual cells distinguished mutation patterns between cell types and variation among cells. The results indicated that single-cell sequencing, duplex methods and bulk sequencing, which analyses DNA from many cells together, complemented one another. Combining all three offered a comprehensive picture of DNA differences among cells within tissues.

Why it matters

Somatic mosaicism, genetic differences among cells in the same person, is increasingly recognised as a fundamental feature of human biology. The findings provide researchers and clinicians with a roadmap for analysing these differences across the genome.

Caveats

These experiments benchmarked measurement methods, rather than testing links between mutations and aging or health outcomes. The data resources covered nine analysed samples from cell lines and donor tissues.

The paper

Comprehensive benchmarking of somatic mutation detection by the SMaHT Network

Somatic Mosaicism across Human Tissues Network. Electronic address: abyzov.alexej@mayo.edu, Somatic Mosaicism across Human Tissues Network

Cell, 15 Oct 2026

doi.org/10.1016/j.cell.2026.09.037PubMed 42880231