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Author

Benjamin K. Johnson

2 papers indexed here

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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
Open access Oct 2026

A pangenomic method for establishing a synthetic somatic variant resource in HapMap mixtures.

Somatic mosaicism is widespread in human biology and disease, yet robust benchmarks are scarce. The Somatic Mosaicism across Human Tissues (SMaHT) Consortium mixed six HapMap cell lines to create artificial somatic variants spanning 0.25%-16.5% variant allele fractions. We developed a technology-agnostic method that bu...

Nahyun Kong, Zi-Tian Tang, Andrew Ruttenberg et al. · 1 citation

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