UC Santa Cruz Institute for Genomics, University of California, Santa Cruz, Santa Cruz, CA, USA.
Glenn Hickey, Jean Monlong, Adam M. Novak, Jordan M. Eizenga, Mobin Asri, Xian H. Chang, Mark Diekhans, Marina Haukness, David Haussler, Julian K. Lucas, Charles Markello, Karen H. Miga, Hugh E. Olsen , Trevor Pesout, Jouni Sirén and Benedict Paten
Institute for Medical Biometrics and Bioinformatics, Faculty of Medicine, Heinrich Heine University of Düsseldorf, Düsseldorf, Germany
Jana Ebler and Tobias Marshall
Center for Digital Medicine, Heinrich Heine University of Düsseldorf, Düsseldorf, Germany
Jana Ebler, Daniel Doerr, Peter Ebert, Jana Ebler, Hugo Magalhães, Pierre Marijon, Tobias Marschall & Tobias Marschall
Center for Computational and Genomic Medicine, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA.
yan gao
Department of Information Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.
Haoyu Cheng, Justin Chu, Xiaowen Feng, and Heng Li
Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
Haoyu Cheng, Xiaowen Feng, Carlos García Girón and Heng Li
Division of Oncology, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Haley J. Abel
McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Lucinda L. Antonacci-Fulton, Sarah Cody, Robert S. Fulton, Allison A. Regier, Chad Tomlinson, and Ting Wang
Google LLC, Mountain View, CA, USA
Gunjan Baid, Anastasiya Belyaeva, Andrew Carroll, Pi-Chuan Chang, Daniel E. Cook, Alexey Kolesnikov, Maria Nattestad, and Kishwar Shafin
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Carl A. Baker, Evan E. Eichler, William T. Harvey, Kendra Hoekzema, Jennifer Kordosky, Alexandra P. Lewis, Katherine M. Munson, David Porubsky, and Mitchell R. Vollger
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK
Konstantinos Billis, Susan Fairley, Paul Flicek, Adam Frankish, Leanne Haggerty, Thibaut Hourlier, Jan O. Korbel, Fergal J. Martin, and Francesca Floriana Tricomi
Department of Human Genetics, McGill University, Montreal, QC, Canada
Guillermo Bourque
Canadian Center for Computational Genomics, McGill University, Montreal, QC, Canada
Guillermo Bourque
Institute for the Advanced Study of Human Biology (WPI-ASHBi), Kyoto University, Kyoto, Japan
Guillermo Bourque
Institute of Genetics and Biophysics, National Research Council, Naples, Italy
Silvia Buonaiuto and Vincenza Colonna
Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA.
Marcos JP Chaisson and Tsung-Yu Lu
Department of Genetics, Genomics, and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.
Vincenza Colonna, Christian Fischer, Erik Garrison, Andrea Guarracino, Pjotr Prins and Flavia Villani
Arizona State University, Barrett and O’Connor Washington Center, Washington, DC, USA.
Robert M. Cook-Deegan
Department of Ecology and Evolutionary Biology, University of California, Santa Cruz, Santa Cruz, CA, USA.
Omar E. Cornejo and Samuel Sacco
Institute for Medical Biometrics and Bioinformatics, Faculty of Medicine, Heinrich Heine University of Düsseldorf, Düsseldorf, Germany
Daniel Doerr, Peter Ebert, Jana Ebler, Hugo Magalhães, Pierre Marijon and Tobias Marschall
Basic Unit for Bioinformatics, Faculty of Medicine, Heinrich Heine University of Düsseldorf, Düsseldorf, Germany
Peter Ebert
Howard Hughes Medical Institute, Chevy Chase, MD, USA
Evan E. Eichler, David Haussler, and Erich D. Jarvis
Vertebrate Genome Laboratory, Rockefeller University, New York, NY, USA.
Olivier Fedrigo, Giulio Formenti, Erich D. Jarvis, and Jacquelyn Mountcastle
National Institutes of Health (NIH)–National Human Genome Research Institute, Bethesda, MD, USA.
Adam L. Felsenfeld, Baergen I. Schultz, Michael W. Smith, and Heidi J. Sofia
Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.
Robert S. Fulton and Ting Wang
Novo Nordisk Foundation Center for Biosustainability, Technical University of Denmark, Copenhagen, Denmark
shilpa garg
Institute for Society and Genetics, College of Letters and Science, University of California, Los Angeles, Los Angeles, CA, USA.
Garrison of Nanibaa’ A.
Institute for Precision Health, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Garrison of Nanibaa’ A.
Division of General Internal Medicine and Health Services Research, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Garrison of Nanibaa’ A.
Department of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA, USA.
Richard E Green
Dovetail Genomics, Scotts Valley, CA, USA.
Richard E Green
Quantitative Biological Sciences, McGill University, Montreal, QC, Canada
Christian Groza
Center for Genomic Research, Human Technopole, Milan, Italy
andrea guarracino
Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
Ira M. Hall, Wen-Wei Liao and Shuangjia Lu
Center for Genomic Health, Yale University School of Medicine, New Haven, CT, USA.
Ira M. Hall and Wen-Wei Liao
Center for Quantitative Biology (QBiC), University of Tübingen, Tübingen, Germany
Simon Heumos
Biomedical Data Science, Department of Computer Science, University of Tübingen, Tübingen, Germany
Simon Heumos
Tree of Life, Wellcome Sanger Institute, Hinxton, Cambridge, UK
Kerstin Howe and Jonathan MD Wood
Northeastern University, Boston, MA, USA
jain miten
Neurogenetics of Language Laboratory, Rockefeller University, New York, NY, USA.
Erich D Jarvis
Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.
Hanlee P. Ji and Ho Joon Lee
Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Eimear E Kenny
Program in Bioethics and Institute of Human Genetics, University of California, San Francisco, San Francisco, CA, USA.
Barbara A. Koenig
European Molecular Biology Laboratory, Genome Biology Unit, Heidelberg, Germany
Jan O Korbel
Genome Informatics Section, Computational Genomics and Statistics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Sergey Koren, Ann McCartney, Sergey Nurk, Adam M. Phillippy, Mikko Rautiainen, Arang Rhie, and Brian Walenz
Division of Biology and Biomedical Sciences, Washington University School of Medicine, St. Louis, MO, USA.
Wen Wei Liao
Department of Computer Science, Barcelona Supercomputing Center, Barcelona, Spain
Santiago Marco Alone
Department of Computer Architecture and Operative Systems, Autonomous University of Barcelona, Barcelona, Spain
Santiago Marco Alone
Materials Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA.
Jennifer McDaniel, Nathan D. Olson, Justin Wagner, and Justin M. Zook
Coriell Institute for Medical Research, Camden, NJ, USA.
Matthew W. Mitchell
Department of Computer Science, University of Pisa, Pisa, Italy
Moses Njagi Mwaniki
Department of Public Health Sciences, University of California, Davis, Davis, CA, USA.
Alice B. Popejoy
Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
Daniela Puiu and Aleksey V. Zimin
Berlin Institute for Medical Systems Biology, Max Delbrück Center for Molecular Medicine of the Helmholtz Association, Berlin, Germany
Ashley D. Sanders
National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
Valerie A. Schneider and Françoise Thibaud-Nissen
Center for Health Data Science, University of Copenhagen, Copenhagen, Denmark
Jonas A Sibbesen
Al Jalila Center of Excellence in Genomics, Al Jalila Children’s Specialty Hospital, Dubai, United Arab Emirates
Ahmad N. Abou Tayoun
Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates
Ahmad N. Abou Tayoun
Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA, USA.
Mitchell R Vollger
Center for Computational Biology, Johns Hopkins University, Baltimore, MD, USA.
Alexey V. Zimin
GH, JM, HL and BP designed the method. GH, JM and JE contributed to the results and analyses. GH, JM, AN, JE and BP wrote the manuscript. All authors contributed to the software. BP led the project.
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