Article

A Pangenomic Method for Establishing a Somatic Variant Detection Resource in HapMap Mixtures

2025-10-01

Abstract excerpt

<h4>SUMMARY</h4> Somatic mosaicism is essential in human biology and disease, yet robust benchmarks are scarce. The SMaHT Consortium mixed six HapMap cell lines to create artificial somatic variants spanning 0.25% to 16.5% variant allele fractions. We developed a technology-agnostic method that builds pangenome graphs from individual assemblies to create unified benchmarking sets: > 6M single-nucleotide variants,...

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Literature Corpus work: 1d1237b4-faa5-5409-aee0-ecdc63d8c571
DOI: 10.1101/2025.09.29.679336

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