articleNatureJul 23, 2025HYBRID OA

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

SSSiegfried SchloissnigSPSamarendra PaniJEJana EblerCHCarsten HainVTVasiliki Tsapalou

Research Institute of Molecular Pathology · Düsseldorf University Hospital · +17 more institutions

PubMed
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Abstract

Abstract Genomic structural variants (SVs) contribute substantially to genetic diversity and human diseases 1–4 , yet remain under-characterized in population-scale cohorts 5 . Here we conducted long-read sequencing 6 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 repeats 7 , 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…

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43
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32

Topics & keywords

Topics
Keywords
  • Variation (astronomy)
  • Structural variation
  • Computational biology
  • Evolutionary biology
  • Biology
  • Genetics
  • Genome
  • Physics
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