Structural variation in 1,019 diverse humans based on long-read sequencing.
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| Title: | Structural variation in 1,019 diverse humans based on long-read sequencing. |
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| Authors: | Schloissnig S; Research Institute of Molecular Pathology (IMP), Vienna BioCenter (VBC), Vienna, Austria., Pani S; Institute for Medical Biometry and Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; Center for Digital Medicine, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Ebler J; Institute for Medical Biometry and Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; Center for Digital Medicine, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Hain C; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany., Tsapalou V; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany., Söylev A; Institute for Medical Biometry and Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; Center for Digital Medicine, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Hüther P; Research Institute of Molecular Pathology (IMP), Vienna BioCenter (VBC), Vienna, Austria.; Institute of Molecular Biology (IMB), Mainz, Germany., Ashraf H; Institute for Medical Biometry and Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; Center for Digital Medicine, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Prodanov T; Institute for Medical Biometry and Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; Center for Digital Medicine, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Asparuhova M; Research Institute of Molecular Pathology (IMP), Vienna BioCenter (VBC), Vienna, Austria.; Institute of Molecular Biotechnology of the Austrian Academy of Sciences (IMBA), Vienna BioCenter (VBC), Vienna, Austria., Magalhães H; Institute for Medical Biometry and Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; Center for Digital Medicine, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Höps W; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Sotelo-Fonseca JE; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain., Fitzgerald T; European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK., Santana-Garcia W; European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK., Moreira-Pinhal R; Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, Bellaterra, Spain.; Research Programme on Biomedical Informatics (GRIB), Hospital del Mar Research Institute, Barcelona, Spain., Hunt S; European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK., Pérez-Llanos FJ; Biological and Medical Research Center (BMFZ), Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; West German Genome Center (WGGC), Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Wollenweber TE; Biological and Medical Research Center (BMFZ), Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Sivalingam S; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Cáceres M; Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, Bellaterra, Spain.; Research Programme on Biomedical Informatics (GRIB), Hospital del Mar Research Institute, Barcelona, Spain.; ICREA, Barcelona, Spain., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Birney E; European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK., Ding Z; Global Computational Biology and Digital Sciences (gCBDS), Boehringer Ingelheim Pharma GmbH & Co. KG, Biberach an der Riss, Germany., Jensen JN; Global Computational Biology and Digital Sciences (gCBDS), Boehringer Ingelheim Pharma GmbH & Co. KG, Biberach an der Riss, Germany., Podduturi N; Global Computational Biology and Digital Sciences (gCBDS), Boehringer Ingelheim Pharma GmbH & Co. KG, Biberach an der Riss, Germany., Stutzki J; BI X GmbH, Ingelheim am Rhein, Germany., Rodriguez-Martin B; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany. bernardo.rodriguez@crg.eu.; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain. bernardo.rodriguez@crg.eu.; Universitat Pompeu Fabra (UPF), Barcelona, Spain. bernardo.rodriguez@crg.eu., Rausch T; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany. tobias.rausch@embl.de., Marschall T; Institute for Medical Biometry and Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany. tobias.marschall@hhu.de.; Center for Digital Medicine, Heinrich Heine University Düsseldorf, Düsseldorf, Germany. tobias.marschall@hhu.de., Korbel JO; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany. jan.korbel@embl.de.; European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK. jan.korbel@embl.de. |
| Source: | Nature [Nature] 2025 Aug; Vol. 644 (8076), pp. 442-452. Date of Electronic Publication: 2025 Jul 23. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural |
| Journal Info: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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