Author

Tina Lindsay

2 papers indexed here

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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