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

doi:10.1038/s41586-025-09290-7

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Article

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

Nature - 1 Aug 2025

Schloissnig Siegfried, Pani Samarendra, Ebler Jana, Hain Carsten, Tsapalou Vasiliki, Söylev Arda, Hüther Patrick, Ashraf Hufsah, Prodanov Timofey, Asparuhova Mila, Magalhães Hugo, Höps Wolfram, Sotelo-Fonseca Jesus Emiliano, Fitzgerald Tomas, Santana-Garcia Walter, Moreira-Pinhal Ricardo, Hunt Sarah, Pérez-Llanos Francy J, Wollenweber Tassilo Erik, Sivalingam Sugirthan, Wieczorek Dagmar, Cáceres Mario, Gilissen Christian, Birney Ewan, Ding Zhihao, Jensen Jan Nygaard, Podduturi Nikhil, Stutzki Jan, Rodriguez-Martin Bernardo, Rausch Tobias, Marschall Tobias, Korbel Jan O

Abstract excerpt

Genomic structural variants (SVs) contribute substantially to genetic diversity and human diseases1-4, 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...

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PMID: 40702182
DOI: 10.1038/s41586-025-09290-7
PMCID: PMC12350158

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