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