Whole-genome variant detection in long-read sequencing data from ultra-low input patient samples
Katherine Wang, Cera J. Aex, Hayan Lee, Lucas Finot, Kevin Zhu, Julianna R. Chang, Aaron M. Horning, William J. Rowell, Philip Li, Sarah B. Kingan, Michael P. Snyder, Graham Scott Erwin
This study evaluates ULI-HiFi and dMDA for long-read sequencing of low-input samples, finding ULI-HiFi achieves higher variant detection accuracy and reveals disease-relevant genetic changes in a FAP patient.
Genome Research · May 28, 2026Peer-reviewedGenetic & Genomic Medicine