Whole-genome variant detection in long-read sequencing data from ultra-low input patient samples
Katherine Wang, Cera J. Aex, Hayan Lee…·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.