Author

Shi-Hua Dong

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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. · Cell Genomics · 1 citation

Open access Oct 2026

Detecting low-allele-fraction mosaic mutations: A multi-institution benchmarking with cell-line mixtures.

This work establishes a framework and best practices for reliably detecting low-VAF mutations in non-cancer tissues and provides a valuable resource for the community.

Y.-J. Ha, Dominika Maziec, J. Markowski et al. · Cell Genomics · 2 citations

Open access Aug 2026

Human panepigenome represents epigenomic diversity

The human pangenome captures genetic diversity beyond a single linear reference, yet conventional DNA methylome maps largely assume that the underlying CpG substrate is fixed. Here we present a first draft of the human panepigenome on DNA methylation, generated from 440 haplotype-resolved long-read methylomes spanning...

Zheng Dong, Juan F. Macias-Velasco, X. Zhuo et al. · bioRxiv · 0 citations