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Inversion polymorphism in a complete human genome assembly
View ORCID ProfileDavid Porubsky, View ORCID ProfileWilliam T. Harvey, View ORCID ProfileAllison N. Rozanski, View ORCID ProfileJana Ebler, View ORCID ProfileWolfram Höps, View ORCID ProfileHufsah Ashraf, View ORCID ProfilePatrick Hasenfeld, Human Pangenome Reference Consortium (HPRC), Human Genome Structural Variation Consortium (HGSVC), View ORCID ProfileBenedict Paten, View ORCID ProfileAshley D. Sanders, View ORCID ProfileTobias Marschall, View ORCID ProfileJan O. Korbel, View ORCID ProfileEvan E. Eichler
doi: https://doi.org/10.1101/2022.10.06.511148
David Porubsky
1Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA
William T. Harvey
1Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA
Allison N. Rozanski
1Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA
Jana Ebler
2Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 5, 40225 Düsseldorf, Germany
Wolfram Höps
3European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstr. 1, 69117 Heidelberg, Germany
Hufsah Ashraf
2Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 5, 40225 Düsseldorf, Germany
Patrick Hasenfeld
3European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstr. 1, 69117 Heidelberg, Germany
Benedict Paten
4UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA
Ashley D. Sanders
5Berlin Institute for Medical Systems Biology, Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany
Tobias Marschall
2Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 5, 40225 Düsseldorf, Germany
Jan O. Korbel
3European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstr. 1, 69117 Heidelberg, Germany
6European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, United Kingdom
Evan E. Eichler
1Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA
7Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA
Posted October 06, 2022.
Inversion polymorphism in a complete human genome assembly
David Porubsky, William T. Harvey, Allison N. Rozanski, Jana Ebler, Wolfram Höps, Hufsah Ashraf, Patrick Hasenfeld, Human Pangenome Reference Consortium (HPRC), Human Genome Structural Variation Consortium (HGSVC), Benedict Paten, Ashley D. Sanders, Tobias Marschall, Jan O. Korbel, Evan E. Eichler
bioRxiv 2022.10.06.511148; doi: https://doi.org/10.1101/2022.10.06.511148
Inversion polymorphism in a complete human genome assembly
David Porubsky, William T. Harvey, Allison N. Rozanski, Jana Ebler, Wolfram Höps, Hufsah Ashraf, Patrick Hasenfeld, Human Pangenome Reference Consortium (HPRC), Human Genome Structural Variation Consortium (HGSVC), Benedict Paten, Ashley D. Sanders, Tobias Marschall, Jan O. Korbel, Evan E. Eichler
bioRxiv 2022.10.06.511148; doi: https://doi.org/10.1101/2022.10.06.511148
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