Article Information
History
- March 2, 2021.
Copyright
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
Author Information
- Jiadong Lin1,2,3,4,#,
- Xiaofei Yang2,5,#,
- Walter Kosters4,
- Tun Xu1,
- Yanyan Jia1,
- Songbo Wang1,
- Qihui Zhu6,
- Mallory Ryan6,
- Li Guo2,8,
- Chengsheng Zhang6,7,
- The Human Genome Structural Variation Consortium8,
- Charles Lee6,7,
- Scott E. Devine9,1,
- Evan E. Eichler10,11 and
- Kai Ye1,2,3,12,*
- 1School of Automation Science and Engineering, Faculty of Electronic and Information Engineering, Xi’an Jiaotong University, Xi’an, 710049 China
- 2MOE Key Lab for Intelligent Networks & Networks Security, Faculty of Electronic and Information Engineering, Xi’an Jiaotong University, Xi’an, 710049 China
- 3Genome Institute, the First Affiliated Hospital of Xi’an Jiaotong University, Xi’an, 710061 China
- 4Leiden Institute of Advanced Computer Science, Faculty of Science, Leiden University, Leiden, Netherland
- 5School of Computer Science and Technology, Faculty of Electronic and Information Engineering, Xi’an Jiaotong University, Xi’an, 710049 China
- 6The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032
- 7Precision Medicine Center, the First Affiliated Hospital of Xi’an Jiaotong University, Xi’an, 710061 China
- 8Consortium authors are enumerated at the end of this document
- 9Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD 21201, USA
- 10Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98119-5065, USA
- 11Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA
- 12The School of Life Science and Technology, Xi’an Jiaotong University, Xi’an, 710049 China
- ↵*To whom correspondence should be addressed. E-mail: kaiye{at}xjtu.edu.cn (Ye K)
- 1Program in Computational Biology and Bioinformatics, Yale University, BASS 432&437, 266 Whitney Avenue, New Haven, CT 06520, USA
- 2European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstr. 1, 69117 Heidelberg, Germany
- 3New York Genome Center, New York, NY 10013, USA
- 4Center for Genomic Medicine, Massachusetts General Hospital, Department of Neurology, Harvard Medical School, Boston, MA 02114, USA
- 5Department of Computational Medicine & Bioinformatics, University of Michigan, 500 S. State Street, Ann Arbor, MI 48109, USA
- 6Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstr. 20, 40225 Düsseldorf, Germany
- 7Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE, Seattle, WA 98195-5065, USA
- 8European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstr. 1, 69117 Heidelberg, Germany
- 9Division of Computational Genomics and Systems Genetics, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany
- 10The Jackson Laboratory for Genomic Medicine, 10 Discovery Dr, Farmington, CT 06030, USA
- 11Bionano Genomics, San Diego, CA 92121, USA
- 12Department of Genetics and Informatics Institute, School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA
- 13Molecular and Computational Biology, University of Southern California, Los Angeles, CA 90089, USA
- 14Genomes and Disease, Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain
- 15Department of Computer & Information Sciences, Temple University, Philadelphia, PA 19122, USA
- 16Center for Genomic Medicine, Massachusetts General Hospital, Department of Neurology, Harvard Medical School, Boston, MA 02114, USA
- 17Pacific Biosystems of California, Inc., Menlo Park, CA 94025, USA. 17Washington University, St. Louis, MO 63108, USA
- 18European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, United Kingdom
↵# These authors contributed equally to this work.