Single-molecule, quantitative detection of low-abundance somatic mutations by high-throughput sequencing

作者：Alexander Y. Maslov, S. D. Makhortov, Shixiang Sun, Johanna Heid, Xiao Dong, Moonsook Lee, Jan Vijg · 发表于：Science Advances · 年份：2022 · DOI：10.1126/sciadv.abm3259 · 被引用次数：57 · 研究领域：Cancer Genomics and Diagnostics、CRISPR and Genetic Engineering、Single-cell and spatial transcriptomics

Postzygotic somatic mutations have been found associated with human disease, including diseases other than cancer. Most information on somatic mutations has come from studying clonally amplified mutant cells, based on a growth advantage or genetic drift. However, almost all somatic mutations are unique for each cell, and the quantitative analysis of these low-abundance mutations in normal tissues remains a major challenge in biology. Here, we introduce single-molecule mutation sequencing (SMM-seq), a novel approach for quantitative identification of point mutations in normal cells and tissues.