Structural variation in 1,019 diverse humans based on long-read sequencing
Schloissnig and Pani et al. harnessed Oxford Nanopore technology to analyse structural variants (SVs) in 1,019 diverse human genomes, uncovering more than 100,000 SVs and genotyping 300,000 repeat regions — many invisible to short-read methods. This open-access dataset captures rare, ancestry-specific, and disease-associated variants, offering a valuable tool for advancing rare disease research and population genomics.
'Leveraging our resource, we find a high level of genotyping accuracy in the 1,019 samples of our study, particularly in regions fraught with structural complexity, considerably surpassing genotyping with short reads'
Schloissnig and Pani et al. 2025
Sample type: lymphoblastoid cell lines
