Molecular BiologybioRxivPreprint
Expanding the Genome in a Bottle Truth Set: Detection and Validation of Novel Low-frequency Variants Using High-accuracy NanoSeq
Yang Zhang, Hsu Chao, Muchun Niu…·Harsha Vardhan Doddapaneni
The paper introduces NanoSeq-MBN, a method improving variant detection in whole-genome sequencing, expanding the GIAB truth set with novel low-frequency variants and enabling somatic variant benchmarking.
DOI 10.64898/2025.12.05.692678