Structural variation in 1,019 diverse humans based on long-read sequencing.

ABSTRACT: Genomic structural variants (SVs) contribute substantially to genetic diversity and human diseases^1-4, yet remain under-characterized in population-scale cohorts⁵. Here we conducted long-read sequencing⁶ in 1,019 humans to construct an intermediate-coverage resource covering 26 populations from the 1000 Genomes Project. Integrating linear and graph genome-based analyses, we uncover over 100,000 sequence-resolved biallelic SVs and we genotype 300,000 multiallelic variable number of tandem repeats⁷, advancing SV characterization over short-read-based population-scale surveys^3,4. We characterize deletions, duplications, insertions and inversions in distinct populations. Long interspersed nuclear element-1 (L1) and SINE-VNTR-Alu (SVA) retr

SUBMITTER: Schloissnig S 

PROVIDER: S-EPMC12350158 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature