Open access
Oct 2026
Detecting low-allele-fraction mosaic mutations: A multi-institution benchmarking with cell-line mixtures.
Mosaic mutations in normal tissues occur at low variant allele fractions (VAFs), complicating detection. To benchmark variant-calling strategies, the SMaHT Network created a cell-line mixture (1:49) and produced ultra-deep short- and long-read whole-genome sequencing data across five centers (170×-470× per center). We...
Y.-J. Ha, Dominika Maziec, J. Markowski et al.
· Cell Genomics · 2 citations