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Author

Elvisa Mehinovic

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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.

Evaluating multiple callers showed that telomere-to-telomere CHM13 alignment improves structural variant detection and offers advantages in difficult-to-map regions compared to GRCh38, and a binomial-based model was developed to estimate coverage requirements for variant detection.

Nahyun Kong, Zi-Tian Tang, Andrew Ruttenberg et al. · 1 citation
Open access Jul 2026

Uniparental Disomy Reveals Hidden Genetic Causes of Congenital Heart Disease

TrioMix-UPD, an integrated short- and long-read sequencing framework for UPD detection and classification, is developed and established UPD as an underrecognized contributor to CHD.

Nahyun Kong, Javier Abello, Christopher J. Yoon et al. · 0 citations

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