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, Christopher M Grochowski, Kavya Kottapalli, Sravya V Bhamidipati, Donna Marie Muzny, Richard A. Gibbs, Chenghang Chuck Zong, 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.
bioRxiv · Dec 6, 2025 · PreprintMolecular Biology