Dokument: Structural variation in 1,019 diverse humans based on long-read sequencing
| Titel: | Structural variation in 1,019 diverse humans based on long-read sequencing | |||||||
| URL für Lesezeichen: | https://docserv.uni-duesseldorf.de/servlets/DocumentServlet?id=71429 | |||||||
| URN (NBN): | urn:nbn:de:hbz:061-20251119-112431-7 | |||||||
| Kollektion: | Publikationen | |||||||
| Sprache: | Englisch | |||||||
| Dokumententyp: | Wissenschaftliche Texte » Artikel, Aufsatz | |||||||
| Medientyp: | Text | |||||||
| Autoren: | Pani, Samarendra [Autor] Ebler, Jana [Autor] Söylev, Arda [Autor] Ashraf, Hufsah [Autor] Prodanov, Timofey [Autor] Magalhães, Hugo [Autor] Pérez-Llanos, Francy J. [Autor] Wollenweber, Tassilo Erik [Autor] Sivalingam, Sugirtahn [Autor] Wieczorek, Dagmar [Autor] | |||||||
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| Beschreibung: | Genomic structural variants (SVs) contribute substantially to genetic diversity and human diseases1,2,3,4, 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 surveys3,4. We characterize deletions, duplications, insertions and inversions in distinct populations. Long interspersed nuclear element-1 (L1) and SINE-VNTR-Alu (SVA) retrotransposition activities mediate the transduction8,9 of unique sequence stretches in 5′ or 3′, depending on source mobile element class and locus. SV breakpoint analyses point to a spectrum of homology-mediated processes contributing to SV formation and recurrent deletion events. Our open-access resource underscores the value of long-read sequencing in advancing SV characterization and enables guiding variant prioritization in patient genomes. | |||||||
| Rechtliche Vermerke: | Originalveröffentlichung:
Schloissnig, S., Pani, S., Ebler, J., Hain, C., Tsapalou, V., Söylev, A., Hüther, P., Ashraf, H., Prodanov, T., Asparuhova, M., Magalhães, H., Höps, W., Sotelo-Fonseca, J. E., Fitzgerald, T., Santana-Garcia, W., Moreira-Pinhal, R., Hunt, S., Pérez-Llanos, F. J., Wollenweber, T. E., … Korbel, J. O. (2025). Structural variation in 1,019 diverse humans based on long-read sequencing. Nature, 644(8076), 442–452. https://doi.org/10.1038/s41586-025-09290-7 | |||||||
| Lizenz: |  Dieses Werk ist lizenziert unter einer Creative Commons Namensnennung 4.0 International Lizenz | |||||||
| Fachbereich / Einrichtung: | Medizinische Fakultät | |||||||
| Dokument erstellt am: | 19.11.2025 | |||||||
| Dateien geändert am: | 19.11.2025 |
