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Open access Oct 2026

Accurate detection of sub-1% frequency somatic mutations by whole-genome sequencing.

Continuous advances in read accuracy have positioned bulk whole-genome sequencing as a promising approach for somatic mutation discovery in research and clinical settings, but its utility for detecting low-frequency mutations in high-coverage data has not been thoroughly assessed. We utilized an experimental design fea...

Yeongjun Jang, Stephanie Gardiner, Yifan Wang et al. · 2 citations
Open access Oct 2026

Comprehensive benchmarking of somatic mutation detection by the SMaHT Network.

Somatic mosaicism is increasingly recognized as a fundamental feature of human biology, yet the detection of somatic mutations remains challenging. The Somatic Mosaicism across Human Tissues (SMaHT) Network conducted large-scale benchmarking experiments involving cell lines and donor tissues to evaluate sequencing tech...

A. Abyzov, Abhiram Natu, Adam Voshall et al. · 1 citation

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