NanoVar: Accurate Characterization of Patients’ Genomic Structural Variants Using Low-Depth Nanopore Sequencing
Cheng Yong Tham, Roberto Tirado-Magallanes, Yufen Goh, Melissa J. Fullwood, Bryan T. H. Koh, Wilson Wang, Chin Hin Ng, Wee Joo Chng, Alexandre H. Thiéry, Daniel Geoffrey Tenen, Touati Benoukraf
NanoVar accurately detects structural variants using low-depth Nanopore sequencing, achieving high F1 score in simulated data and uncovering normal alleles in patient samples.
Genome biology · Mar 3, 2020Peer-reviewedBioinformatics