New Results
Automated assembly of high-quality diploid human reference genomes
View ORCID ProfileErich D. Jarvis, View ORCID ProfileGiulio Formenti, View ORCID ProfileArang Rhie, View ORCID ProfileAndrea Guarracino, Chentao Yang, Jonathan Wood, Alan Tracey, Francoise Thibaud-Nissen, View ORCID ProfileMitchell R. Vollger, David Porubsky, Haoyu Cheng, Mobin Asri, Glennis A. Logsdon, Paolo Carnevali, Mark J.P. Chaisson, Chen-Shan Chin, Sarah Cody, View ORCID ProfileJoanna Collins, View ORCID ProfilePeter Ebert, View ORCID ProfileMerly Escalona, View ORCID ProfileOlivier Fedrigo, Robert S. Fulton, Lucinda L. Fulton, Shilpa Garg, Jay Ghurye, View ORCID ProfileEdward Green, Ira Hall, William Harvey, Patrick Hasenfeld, Alex Hastie, Marina Haukness, Miten Jain, View ORCID ProfileMelanie Kirsche, Mikhail Kolmogorov, Jan O. Korbel, Sergey Koren, Jonas Korlach, Joyce Lee, View ORCID ProfileDaofeng Li, Tina Lindsay, Julian Lucas, Feng Luo, Tobias Marschall, Jennifer McDaniel, Fan Nie, Hugh E. Olsen, Nathan D. Olson, View ORCID ProfileTrevor Pesout, Daniela Puiu, Allison Regier, Jue Ruan, Steven L. Salzberg, Ashley D. Sanders, Michael C. Schatz, Anthony Schmitt, Valerie A. Schneider, Siddarth Selvaraj, View ORCID ProfileKishwar Shafin, Alaina Shumate, Catherine Stober, James Torrance, Justin Wagner, Jianxin Wang, Aaron Wenger, Chuanle Xiao, Aleksey V. Zimin, Guojie Zhang, Ting Wang, View ORCID ProfileHeng Li, View ORCID ProfileErik Garrison, David Haussler, View ORCID ProfileJustin M. Zook, View ORCID ProfileEvan E. Eichler, Adam M. Phillippy, Benedict Paten, View ORCID ProfileKerstin Howe, Karen H. Miga, Human Pangenome Reference Consortium
doi: https://doi.org/10.1101/2022.03.06.483034
Erich D. Jarvis
1Vertebrate Genome Laboratory, The Rockefeller University, New York, NY, USA
2Investigator, Howard Hughes Medical Institute, Chevy Chase, MD, USA
Giulio Formenti
1Vertebrate Genome Laboratory, The Rockefeller University, New York, NY, USA
Arang Rhie
3National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Andrea Guarracino
4Genomics Research Centre, Human Technopole, Viale Rita Levi-Montalcini, Milano MI, Italy
Chentao Yang
5BGI-Shenzhen, Shenzhen, China
Jonathan Wood
6Tree of Life, Wellcome Sanger Institute, Cambridge, MA, USA
Alan Tracey
6Tree of Life, Wellcome Sanger Institute, Cambridge, MA, USA
Francoise Thibaud-Nissen
7NCBI, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA
Mitchell R. Vollger
8Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA
David Porubsky
8Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA
Haoyu Cheng
9Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA
10Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA
Mobin Asri
11UC Santa Cruz Genomics Institute, University of California Santa Cruz, CA, USA
Glennis A. Logsdon
8Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA
Paolo Carnevali
12Chan Zuckerberg Initiative, Redwood City, CA, USA
Mark J.P. Chaisson
13Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA
Chen-Shan Chin
14Foundation for Biological Data Science, Belmont, CA, USA
Sarah Cody
15McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA
Joanna Collins
6Tree of Life, Wellcome Sanger Institute, Cambridge, MA, USA
Peter Ebert
16Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany
Merly Escalona
17Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA
Olivier Fedrigo
1Vertebrate Genome Laboratory, The Rockefeller University, New York, NY, USA
Robert S. Fulton
15McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA
Lucinda L. Fulton
15McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA
Shilpa Garg
18Department of Biology, University of Copenhagen, Copenhagen Denmark
Jay Ghurye
19Dovetail Genomics, Scotts Valley, CA, USA
Edward Green
19Dovetail Genomics, Scotts Valley, CA, USA
Ira Hall
20Yale School of Medicine, New Haven, CT, USA
William Harvey
8Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA
Patrick Hasenfeld
21Genome Biology, European Molecular Biology Laboratory, Heidelberg, Germany
Alex Hastie
22Bionano Genomics, San Diego, CA, USA
Marina Haukness
11UC Santa Cruz Genomics Institute, University of California Santa Cruz, CA, USA
Miten Jain
11UC Santa Cruz Genomics Institute, University of California Santa Cruz, CA, USA
Melanie Kirsche
23Department of Computer Science, Johns Hopkins University, Baltimore, MD USA
Mikhail Kolmogorov
24Department of Computer Science and Engineering, University of California San Diego, La Jolla, CA, USA
Jan O. Korbel
21Genome Biology, European Molecular Biology Laboratory, Heidelberg, Germany
Sergey Koren
3National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Jonas Korlach
25Pacific Biosciences, Menlo Park, CA, USA
Joyce Lee
22Bionano Genomics, San Diego, CA, USA
Daofeng Li
26Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA
Tina Lindsay
15McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA
Julian Lucas
11UC Santa Cruz Genomics Institute, University of California Santa Cruz, CA, USA
Feng Luo
27School of Computing, Clemson University, Clemson, SC, USA
Tobias Marschall
16Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany
Jennifer McDaniel
28Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA
Fan Nie
29Hunan Provincial Key Lab on Bioinformatics, School of Computer Science and Engineering, Central South University, Changsha, China
Hugh E. Olsen
11UC Santa Cruz Genomics Institute, University of California Santa Cruz, CA, USA
Nathan D. Olson
28Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA
Trevor Pesout
11UC Santa Cruz Genomics Institute, University of California Santa Cruz, CA, USA
Daniela Puiu
30Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA
Allison Regier
31DNAnexus, Mountain View, CA, USA
Jue Ruan
32Agricultural Genomics Institute, Chinese Academy of Agricultural Sciences, Shenzhen, China
Steven L. Salzberg
30Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA
Ashley D. Sanders
33Berlin Institute for Medical Systems Biology, Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany
Michael C. Schatz
23Department of Computer Science, Johns Hopkins University, Baltimore, MD USA
Anthony Schmitt
34Arima Genomics, San Diego, CA, USA
Valerie A. Schneider
7NCBI, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA
Siddarth Selvaraj
34Arima Genomics, San Diego, CA, USA
Kishwar Shafin
11UC Santa Cruz Genomics Institute, University of California Santa Cruz, CA, USA
Alaina Shumate
30Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA
Catherine Stober
21Genome Biology, European Molecular Biology Laboratory, Heidelberg, Germany
James Torrance
6Tree of Life, Wellcome Sanger Institute, Cambridge, MA, USA
Justin Wagner
28Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA
Jianxin Wang
29Hunan Provincial Key Lab on Bioinformatics, School of Computer Science and Engineering, Central South University, Changsha, China
Aaron Wenger
25Pacific Biosciences, Menlo Park, CA, USA
Chuanle Xiao
35State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China
Aleksey V. Zimin
30Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA
Guojie Zhang
36Kunming Institute of Zoology, Chinese Academy of Sciences, China
Ting Wang
15McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA
26Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA
37Edison Family Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO, USA
Heng Li
9Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA
Erik Garrison
38Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA
David Haussler
39Department of Ecology and Evolutionary Biology, University of California Santa Cruz, Santa Cruz, CA, USA
Justin M. Zook
28Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA
Evan E. Eichler
8Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA
Adam M. Phillippy
3National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Benedict Paten
11UC Santa Cruz Genomics Institute, University of California Santa Cruz, CA, USA
Kerstin Howe
6Tree of Life, Wellcome Sanger Institute, Cambridge, MA, USA
Karen H. Miga
11UC Santa Cruz Genomics Institute, University of California Santa Cruz, CA, USA
Posted March 06, 2022.
Automated assembly of high-quality diploid human reference genomes
Erich D. Jarvis, Giulio Formenti, Arang Rhie, Andrea Guarracino, Chentao Yang, Jonathan Wood, Alan Tracey, Francoise Thibaud-Nissen, Mitchell R. Vollger, David Porubsky, Haoyu Cheng, Mobin Asri, Glennis A. Logsdon, Paolo Carnevali, Mark J.P. Chaisson, Chen-Shan Chin, Sarah Cody, Joanna Collins, Peter Ebert, Merly Escalona, Olivier Fedrigo, Robert S. Fulton, Lucinda L. Fulton, Shilpa Garg, Jay Ghurye, Edward Green, Ira Hall, William Harvey, Patrick Hasenfeld, Alex Hastie, Marina Haukness, Miten Jain, Melanie Kirsche, Mikhail Kolmogorov, Jan O. Korbel, Sergey Koren, Jonas Korlach, Joyce Lee, Daofeng Li, Tina Lindsay, Julian Lucas, Feng Luo, Tobias Marschall, Jennifer McDaniel, Fan Nie, Hugh E. Olsen, Nathan D. Olson, Trevor Pesout, Daniela Puiu, Allison Regier, Jue Ruan, Steven L. Salzberg, Ashley D. Sanders, Michael C. Schatz, Anthony Schmitt, Valerie A. Schneider, Siddarth Selvaraj, Kishwar Shafin, Alaina Shumate, Catherine Stober, James Torrance, Justin Wagner, Jianxin Wang, Aaron Wenger, Chuanle Xiao, Aleksey V. Zimin, Guojie Zhang, Ting Wang, Heng Li, Erik Garrison, David Haussler, Justin M. Zook, Evan E. Eichler, Adam M. Phillippy, Benedict Paten, Kerstin Howe, Karen H. Miga, Human Pangenome Reference Consortium
bioRxiv 2022.03.06.483034; doi: https://doi.org/10.1101/2022.03.06.483034
Automated assembly of high-quality diploid human reference genomes
Erich D. Jarvis, Giulio Formenti, Arang Rhie, Andrea Guarracino, Chentao Yang, Jonathan Wood, Alan Tracey, Francoise Thibaud-Nissen, Mitchell R. Vollger, David Porubsky, Haoyu Cheng, Mobin Asri, Glennis A. Logsdon, Paolo Carnevali, Mark J.P. Chaisson, Chen-Shan Chin, Sarah Cody, Joanna Collins, Peter Ebert, Merly Escalona, Olivier Fedrigo, Robert S. Fulton, Lucinda L. Fulton, Shilpa Garg, Jay Ghurye, Edward Green, Ira Hall, William Harvey, Patrick Hasenfeld, Alex Hastie, Marina Haukness, Miten Jain, Melanie Kirsche, Mikhail Kolmogorov, Jan O. Korbel, Sergey Koren, Jonas Korlach, Joyce Lee, Daofeng Li, Tina Lindsay, Julian Lucas, Feng Luo, Tobias Marschall, Jennifer McDaniel, Fan Nie, Hugh E. Olsen, Nathan D. Olson, Trevor Pesout, Daniela Puiu, Allison Regier, Jue Ruan, Steven L. Salzberg, Ashley D. Sanders, Michael C. Schatz, Anthony Schmitt, Valerie A. Schneider, Siddarth Selvaraj, Kishwar Shafin, Alaina Shumate, Catherine Stober, James Torrance, Justin Wagner, Jianxin Wang, Aaron Wenger, Chuanle Xiao, Aleksey V. Zimin, Guojie Zhang, Ting Wang, Heng Li, Erik Garrison, David Haussler, Justin M. Zook, Evan E. Eichler, Adam M. Phillippy, Benedict Paten, Kerstin Howe, Karen H. Miga, Human Pangenome Reference Consortium
bioRxiv 2022.03.06.483034; doi: https://doi.org/10.1101/2022.03.06.483034
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