Telomere-to-Telomere Map of Cancer Somatic Mutations Finds About 16 Percent in Reference Genome Blind Spots

A University of Washington team, working with the SMaHT Assembly working group, published a Cell paper using telomere-to-telomere (T2T) assembly to map the full landscape of somatic mutations in cancer, finding that roughly 16 percent of mutations fall in blind spots of the reference genome. The work is part of the SMaHT program launched by NIH in May 2023, which aims to build a reference map of somatic mutations across human tissues and analyze their effects on health and disease.