Department of Genetics, Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
Shenghan Gao, Keisuke K. Oshima, Shu-Cheng Chuang & Glennis A. Logsdon
Department of Genetics & Biochemistry, Clemson University, Clemson, SC, USA
Mark Loftus, Gianni V. Martino & Miriam K. Konkel
Institute for Human Genetics, Clemson University, Greenwood, SC, USA
Mark Loftus & Miriam K. Konkel
The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA
Mark Loftus, Peter A. Audano, Parithi Balachandran, Christine R. Beck, Pille Hallast, Kwondo Kim, Charles Lee, Mark Loftus, Carolyn Paisie, Feyza Yilmaz, Qihui Zhu & Matthew W. Mitchell
Stowers Institute for Medical Research, Kansas City, MO, USA
Tamara A. Potapova & Jennifer L. Gerton
Department of Biosciences, Biotechnology and Environment, University of Bari Aldo Moro, Bari, Italy
Annalaura Montanari & Mario Ventura
Department of Genetics, Cell Biology, and Development, University of Minnesota, Twin Cities, MN, USA
David S. Gordon & PingHsun Hsieh
Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai, China
Zikun Yang & Yafei Mao
Zhiyuan College, Shanghai Jiao Tong University, Shanghai, China
Zikun Yang & Yafei Mao
Shanghai Key Laboratory of Embryo Original Diseases, International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
Yafei Mao
Center for Comparative Biomedicine, Ministry of Education Key Laboratory of Systems Biomedicine, State Key Laboratory of Medical Genomics, Institute of Systems Biomedicine, Shanghai Jiao Tong University, Shanghai, China
Yafei Mao
Institute for Health Informatics, University of Minnesota, Twin Cities, MN, USA
PingHsun Hsieh
Department of Biochemistry and Molecular Biology, University of Kansas Medical Center, Kansas City, KS, USA
Jennifer L. Gerton
Institute for Medical Biometry and Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany
Hufsah Ashraf, Jana Ebler, Mir Henglin, Tobias Marschall, Samarendra Pani, Timofey Prodanov & Arda Söylev
Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany
Hufsah Ashraf, Peter Ebert, Jana Ebler, Mir Henglin, Tobias Marschall, Samarendra Pani, Timofey Prodanov, Daniel Doerr, Peter Heringer & Arda Söylev
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA
Marcelo Ayllon, Evan E. Eichler, Kendra Hoekzema, Youngjun Kwon, Jiadong Lin, Katherine M. Munson, Lingbin Ni, David Porubsky, Kaitlyn Sun, DongAhn Yoo, Gage H. Garcia, David Porubsky, Luyao Ren & Andrew B. Stergachis
European Molecular Biology Laboratory, Wellcome Genome Campus, European Bioinformatics Institute, Cambridge, UK
Andrey Azov, Lucy Brooks, Aine Fairbrother-Browne, Mallory Freeberg, Sarah Hunt, Likhitha Surapaneni & Andres Veidenberg
New York Genome Center, New York, NY, USA
Anna O. Basile, Marta Byrska-Bishop, André Corvelo, Giuseppe Narzisi & Michael C. Zody
The University of Connecticut Health Center, Farmington, CT, USA
Christine R. Beck
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
Marc Jan Bonder
Oncode Institute, Utrecht, The Netherlands
Marc Jan Bonder
Division of Computational Genomics and Systems Genetics, German Cancer Research Center (DKFZ), Heidelberg, Germany
Marc Jan Bonder
Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA
Mark J. P. Chaisson, Bida Gu, Keon Rabbani & Walfred Ma
Department of Biomedical Informatics and Data Science, Heersink School of Medicine, University of Alabama, Birmingham, AL, USA
Zechen Chong, Chia-Hsuan Fan, Kaili Hu, Zishan Peng & Yuwei Song
Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD, USA
Jonathan Crabtree & Scott E. Devine
Core Unit Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany
Peter Ebert
Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA
Evan E. Eichler, Erich D. Jarvis & Luyao Ren
Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, USA
Mark B. Gerstein, Matthew Jensen, Yunzhe Jiang & Jiaqi Li
Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA
Mark B. Gerstein, Matthew Jensen, Yunzhe Jiang & Jiaqi Li
Genome Biology Unit, European Molecular Biology Laboratory, Heidelberg, Germany
Patrick Hasenfeld, Jan O. Korbel, Tobias Rausch & Vasiliki Tsapalou
Terry Fox Laboratory, BC Cancer Agency, Vancouver, British Columbia, Canada
Peter M. Lansdorp & Tiffany Leung
Department of Computer and Information Sciences, Temple University, Philadelphia, PA, USA
Chong Li & Xinghua Shi
Institute for Genomics and Evolutionary Medicine, Temple University, Philadelphia, PA, USA
Chong Li & Xinghua Shi
Department of Computational Medicine & Bioinformatics, University of Michigan, Ann Arbor, MI, USA
Ryan E. Mills & Weichen Zhou
Cardiovascular Research Institute and Institute for Human Genetics, UCSF School of Medicine, San Francisco, CA, USA
Yulia Mostovoy
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Michael E. Talkowski & Xuefang Zhao
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA
Michael E. Talkowski & Xuefang Zhao
Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA
Michael E. Talkowski & Xuefang Zhao
McDonnell Genome Institute, Washington University School of Medicine, St Louis, MO, USA
Derek Albracht, Lucinda Antonacci-Fulton, Edward A. Belter Jr, Sarah Cody, Robert S. Fulton, John E. Garza, Tina A. Graves-Lindsay, Milinn Kremitzki, Juan F. Macias-Velasco, Christopher Markovic, Chad Tomlinson & Ting Wang
Department of Human Molecular Genetics and Biochemistry, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel
Ivan A. Alexandrov
European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Cambridge, UK
Jamie Allen, Jitender Cheema, Adam Frankish, Mallory A. Freeberg, Leanne Haggerty, S. Nakib Hossain, Sarah E. Hunt, Toby Hunt, Jane E. Loveland, Fergal J. Martin, Jonathan M. Mudge, Swati Sinha, Marie-Marthe Suner, Jack A. S. Tierney & Francesca Floriana Tricomi
Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE
Alawi A. Alsheikh-Ali, Mohammad Amiruddin Hashmi, Nasna Nassir & Mohammed Uddin
Department of Genetics, Stanford University, Palo Alto, CA, USA
Nicolas Altemose, Danilo Dubocanin & Alexander G. Ioannidis
Department of Genetics, Washington University School of Medicine, St Louis, MO, USA
Casey Andrews, Zheng Dong, Qichen Fu, Juan Jiang, Milinn Kremitzki, Heather A. Lawson, Daofeng Li, Tianjie Liu, Juan F. Macias-Velasco, Ting Wang, Zilan Xin, Zheng Xu, Wenjin Zhang & Xiaoyu Zhuo
Genome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Dmitry Antipov, Nancy F. Hansen, Juhyun Kim, Sergey Koren, Adam M. Phillippy, Brandon D. Pickett, Arang Rhie, Steven J. Solar & Brian P. Walenz
UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA
Mobin Asri, Halle D. Bender, Andrew P. Blair, Ann M. Mc Cartney, Monika Cechova, Xian Chang, Hiram Clawson, Mark Diekhans, Jordan M. Eizenga, Parsa Eskandar, Joshua M. V. Gardner, Maximilian Haeussler, David Haussler, Prajna Hebbar, Glenn Hickey, Todd L. Hillaker, Alexander G. Ioannidis, Nafiseh Jafarzadeh, Ryan Lorig-Roach, Hailey Loucks, Julian K. Lucas, Mira Mastoras, Brandy McNulty, Julian M. Menendez, Karen H. Miga, Shloka Negi, Adam M. Novak, Faith Okamoto, Benedict Paten, Anandi Radhakrishnan, Brian J. Raney, Jouni Sirén & Ivo Violich
The Vertebrate Genome Laboratory, The Rockefeller University, New York, NY, USA
Jennifer R. Balacco, Giulio Formenti, Nivesh Jain, Erich D. Jarvis, Bonhwang Koo, Jack A. Medico, Sadye Paez, Marco Sollitto & Conor V. Whelan
Bioinnovation and Genome Sciences, The Translational Genomics Research Institute (TGen), Phoenix, AZ, USA
Floris P. Barthel, Andrea Guarracino, Yue Hao, Maryam Jehangir & T. Rhyker Ranallo-Benavidez
Human Technopole, Milan, Italy
Davide Bolognini, Clelia Peano, Alessandro Raveane, Nicole Soranzo & Giulia Zunino
Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA
Katherine E. Bonini, Eimear E. Kenny, Ruhollah Shemirani & Lisa E. Wang
Department of Computer and Information Science and Engineering, University of Florida, Gainesville, FL, USA
Christina Boucher, Eddie Ferro & Rahul Varki
Canadian Center for Computational Genomics, McGill University, Montréal, Quebec, Canada
Guillaume Bourque
Department of Human Genetics, McGill University, Montréal, Quebec, Canada
Guillaume Bourque
Victor Phillip Dahdaleh Institute of Genomic Medicine, Montréal, Quebec, Canada
Guillaume Bourque
Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA
Silvia Buonaiuto, Shuo Cao, Vincenza Colonna, Erik Garrison, Andrea Guarracino, Franco L. Marsico, Laura Pignata, Pjotr Prins, Farnaz Salehi & Flavia Villani
Google, Mountain View, CA, USA
Andrew Carroll, Pi-Chuan Chang & Kishwar Shafin
Department of Biomedical Informatics and Data Science, Yale School of Medicine, New Haven, CT, USA
Haoyu Cheng
Department of Biology, University of Florence, Florence, Italy
Claudio Ciofi, Maria Angela Diroma, Chiara Natali & Marco Sollitto
Department of Ecology and Evolutionary Biology, University of California, Santa Cruz, CA, USA
Holland C. Conwell, Sarah M. Ford, Richard E. Green, Samuel Sacco, William E. Seligmann & Matteo Tommaso Ungaro
Consortium for Science, Policy & Outcomes, Arizona State University, Washington, DC, USA
Robert Cook-Deegan
Department for Endocrinology and Diabetology at the Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany
Daniel Doerr & Peter Heringer
Paul-Langerhans-Group Computational Diabetology, German Diabetes Center (DDZ) and Leibniz Institute for Diabetes Research, Düsseldorf, Germany
Daniel Doerr & Peter Heringer
Wellcome Sanger Institute, Hinxton, UK
Richard Durbin & Nicole Soranzo
Department of Genetics, University of Cambridge, Cambridge, UK
Richard Durbin
ISEM, Univ Montpellier, CNRS, IRD, Montpellier, France
Anna-Sophie Fiston-Lavier, Capucine Mayoud & Shadi Shahatit
Institut Universitaire de France, Paris, France
Anna-Sophie Fiston-Lavier
Department of Computer Science and Engineering, University of California, San Diego, La Jolla, CA, USA
Willard W. Ford & Aarushi Sehgal
Department of Bioethics & Humanities, University of Washington School of Medicine, Seattle, WA, USA
Stephanie M. Fullerton
Department of Data Science, Dana-Farber Cancer Institute, Boston, MA, USA
Yan Gao, Neng Huang, Heng Li, Maximillian G. Marin & Ying Zhou
Department of Anthropology, University of Kansas, Lawrence, KS, USA
Obed A. Garcia
School of Health Sciences, University of Manchester, Manchester, UK
Shilpa Garg
Traditional, Ancestral and Unceded Territory of the Gabrielino/Tongva Peoples, Institute for Society & Genetics, University of California, Los Angeles, Los Angeles, CA, USA
Nanibaa’ A. Garrison
Traditional, Ancestral and Unceded Territory of the Gabrielino/Tongva Peoples, Institute for Precision Health, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA
Nanibaa’ A. Garrison
Traditional, Ancestral and Unceded Territory of the Gabrielino/Tongva Peoples, Division of General Internal Medicine & Health Services Research, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA
Nanibaa’ A. Garrison
Department of Electrical Engineering and Computer Science, University of California, Berkeley, Berkeley, CA, USA
Margarita Geleta
Medical and Population Genomics Lab, Sidra Medicine, Doha, Qatar
Mohammadmersad Ghorbani, Younes Mokrab & Shabir Moosa
Montreal Heart Institute, Montréal, Quebec, Canada
Cristian Groza
Department of Pediatrics, University of California San Diego, La Jolla, CA, USA
Melissa Gymrek
Center for Genomic Health, Yale University School of Medicine, New Haven, CT, USA
Ira M. Hall, Wen-Wei Liao & Shuangjia Lu
Department of Genetics, Yale University School of Medicine, New Haven, CT, USA
Ira M. Hall, Wen-Wei Liao & Shuangjia Lu
Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA
Neng Huang, Heng Li & Maximillian G. Marin
Department of Evolution and Ecology and the Center for Population Biology, University of California, Davis, CA, USA
Charles H. Langley
Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA
Ben Langmead, Michael C. Schatz & Vikram S. Shivakumar
Department of Pediatrics, Division of Genetics, School of Medicine, University of California, Irvine, CA, USA
Jonathan LoTempio Jr
Sun Yat-sen University, Guangzhou, China
Jianguo Lu
Edison Family Center for Genome Sciences & Systems Biology, Washington University School of Medicine, St Louis, MO, USA
Juan F. Macias-Velasco & Ting Wang
Department of Biology and Center for Medical Genomics, Penn State University, University Park, PA, USA
Kateryna D. Makova
Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA
Anna Minkina, Andrew B. Stergachis & Mitchell R. Vollger
Department of Biology, Penn State University, University Park, PA, USA
Saswat K. Mohanty & Linnéa Smeds
Department of Biomedical Science, College of Health Sciences, Qatar University, Doha, Qatar
Younes Mokrab
Department of Genetic Medicine, Weill Cornell Medicine-Qatar, Doha, Qatar
Younes Mokrab
IRSD—Digestive Health Research Institute, University of Toulouse, INSERM, INRAE, ENVT, UPS, Toulouse, France
Jean Monlong
MATCH Biosystems, Elche, Spain
Avelina Moreno-Ochando
Universidad Miguel Hernández de Elche, Elche, Spain
Avelina Moreno-Ochando
Department of Computational Biology and Medical Sciences, The University of Tokyo, Chiba, Japan
Shinichi Morishita, Chie Owa & Yoshihiko Suzuki
Department of Computer Science, University of Pisa, Pisa, Italy
Njagi Mwaniki & Nadia Pisanti
Law School, University of Wisconsin-Madison, Madison, WI, USA
Pilar N. Ossorio
Institute of Genetics and Biomedical Research, UoS of Milan, National Research Council, Milan, Italy
Clelia Peano
Genome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany
David Porubsky
Institute for Molecular Medicine Finland, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland
Mikko Rautiainen
The Center for Bio- and Medical Technologies, Moscow, Russia
Fedor Ryabov
Centre for Biomedical Research and Technology, HSE University, Moscow, Russia
Fedor Ryabov
Department of Biology, Johns Hopkins University, Baltimore, MD, USA
Michael C. Schatz
Coriell Institute for Medical Research, Camden, NJ, USA
Laura B. Scheinfeldt
University of Amsterdam, Amsterdam, The Netherlands
Mahsa Shabani
School of Clinical Medicine, University of Cambridge, Cambridge, UK
Nicole Soranzo
Center for Genomic Discovery, Mohammed Bin Rashid University, Dubai Health, Dubai, UAE
Ahmad Abou Tayoun
Dubai Health Genomic Medicine Center, Dubai Health, Dubai, UAE
Ahmad Abou Tayoun
GenomeArc, Mississauga, Ontario, Canada
Mohammed Uddin
Department of Biology and Biotechnologies “Charles Darwin”, University of Rome “La Sapienza”, Rome, Italy
Matteo Tommaso Ungaro
Center for Genomics, Loma Linda University School of Medicine, Loma Linda, CA, USA
Charles Wang
PacBio, Menlo Park, CA, USA
Aaron M. Wenger
The First Affiliated Hospital of Xi’an Jiaotong University, Xi’an Jiaotong University, Xi’an, China
Kai Ye
S.G., K.K.O. and G.A.L. conceived the project. S.-C.C., T.A.P., A.M. and M.V. performed experiments. S.G., K.K.O., M.L., T.A.P., D.S.G., Z.Y. and G.A.L. analysed the data. Y.M., P.H., J.L.G., M.K.K., M.V. and G.A.L. supervised the project. S.G., K.K.O. and G.A.L. wrote, edited and revised the manuscript. All of the authors have read and approved the manuscript. The Members of the HGSVC and HPRC selected samples, produced sequencing data and generated and evaluated the genome assemblies.
