Somatic mosaicism is increasingly recognized as a fundamental feature of human biology, yet the detection of somatic mutations remains challenging. The Somatic Mosaicism across Human Tissues (SMaHT) Network conducted large-scale benchmarking experiments involving cell lines and donor tissues to evaluate sequencing tech...
A. Abyzov, Abhiram Natu, Adam Voshall et al.· Cell· 1 citation
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
This work establishes a framework and best practices for reliably detecting low-VAF mutations in non-cancer tissues and provides a valuable resource for the community.
Y.-J. Ha, Dominika Maziec, J. Markowski et al.· Cell Genomics· 2 citations
Toxicants in the environment can significantly impact physiology. Environmental chemical exposures during early developmental stages disturb normal embryonic development and programming, and dramatically impact long-term health as individuals age. Female and male animals show distinct phenotypes when responding to a gi...
