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A fully phased accurate assembly of an individual human genome
View ORCID ProfileDavid Porubsky, View ORCID ProfilePeter Ebert, Peter A. Audano, Mitchell R. Vollger, William T. Harvey, Katherine M. Munson, Melanie Sorensen, Arvis Sulovari, Marina Haukness, Maryam Ghareghani, Human Genome Structural Variation Consortium, Peter M. Lansdorp, Benedict Paten, Scott E. Devine, Ashley D. Sanders, Charles Lee, Mark J.P. Chaisson, Jan O. Korbel, View ORCID ProfileEvan E. Eichler, View ORCID ProfileTobias Marschall
doi: https://doi.org/10.1101/855049
David Porubsky
1Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA
Peter Ebert
2Center for Bioinformatics, Saarland University, Saarland Informatics Campus E2.1, 66123 Saarbrücken, Germany
Peter A. Audano
1Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA
Mitchell R. Vollger
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
Katherine M. Munson
1Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA
Melanie Sorensen
1Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA
Arvis Sulovari
1Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA
Marina Haukness
3UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA
Maryam Ghareghani
2Center for Bioinformatics, Saarland University, Saarland Informatics Campus E2.1, 66123 Saarbrücken, Germany
4Max Planck Institute for Informatics, Saarland Informatics Campus E1.4, Saarbrücken, Germany
5HGSVC author names are listed in the Supplementary Note
Peter M. Lansdorp
6Terry Fox Laboratory, BC Cancer Agency, Vancouver, British Columbia, Canada
7Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
Benedict Paten
3UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA
Scott E. Devine
8Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD, USA
Ashley D. Sanders
9European Molecular Biology Laboratory, Genome Biology Unit, Meyerhofstr. 1, 69117 Heidelberg, Germany
Charles Lee
10The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA
Mark J.P. Chaisson
11Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA
Jan O. Korbel
9European Molecular Biology Laboratory, Genome Biology Unit, Meyerhofstr. 1, 69117 Heidelberg, Germany
Evan E. Eichler
1Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA
12Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA
Tobias Marschall
2Center for Bioinformatics, Saarland University, Saarland Informatics Campus E2.1, 66123 Saarbrücken, Germany
4Max Planck Institute for Informatics, Saarland Informatics Campus E1.4, Saarbrücken, Germany
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Posted November 26, 2019.
A fully phased accurate assembly of an individual human genome
David Porubsky, Peter Ebert, Peter A. Audano, Mitchell R. Vollger, William T. Harvey, Katherine M. Munson, Melanie Sorensen, Arvis Sulovari, Marina Haukness, Maryam Ghareghani, Human Genome Structural Variation Consortium, Peter M. Lansdorp, Benedict Paten, Scott E. Devine, Ashley D. Sanders, Charles Lee, Mark J.P. Chaisson, Jan O. Korbel, Evan E. Eichler, Tobias Marschall
bioRxiv 855049; doi: https://doi.org/10.1101/855049
A fully phased accurate assembly of an individual human genome
David Porubsky, Peter Ebert, Peter A. Audano, Mitchell R. Vollger, William T. Harvey, Katherine M. Munson, Melanie Sorensen, Arvis Sulovari, Marina Haukness, Maryam Ghareghani, Human Genome Structural Variation Consortium, Peter M. Lansdorp, Benedict Paten, Scott E. Devine, Ashley D. Sanders, Charles Lee, Mark J.P. Chaisson, Jan O. Korbel, Evan E. Eichler, Tobias Marschall
bioRxiv 855049; doi: https://doi.org/10.1101/855049
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