Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, 72079, USA
Binsheng Gong, Dan Li, Yifan Zhang, Huixiao Hong, Zhichao Liu, Baitang Ning, Shraddha Thakkar, Leihong Wu, Weida Tong & Joshua Xu
Immuneering Corporation, One Broadway, 14th Floor, Cambridge, MA, 02142, USA
Rebecca Kusko
Agilent Technologies, 11011 N Torrey Pines Rd, La Jolla, CA, 92037, USA
Natalia Novoradovskaya
Department of Information Science, University of Arkansas at Little Rock, 2801 S. Univ. Ave, Little Rock, AR, 72204, USA
Yifan Zhang & Mary Yang
State Key Laboratory of Genetic Engineering, School of Life Sciences and Shanghai Cancer Hospital/Cancer Institute, Fudan University, Shanghai, 200438, China
Shangzi Wang, Ying Yu, Yuanting Zheng & Leming Shi
Agilent Technologies, 5301 Stevens Creek Blvd, Santa Clara, CA, 95051, USA
Carlos Pabón-Peña, Katherine Wilkins & Anne Bergstrom Lucas
Research and Development, Burning Rock Biotech, Shanghai, 201114, China
Zhihong Zhang & Fujun Qiu
Bioinformatics, Integrated DNA Technologies, Inc., 1710 Commercial Park, Coralville, IA, 52241, USA
Kevin Lai
iGeneTech, 8 Shengmingyuan Rd., Zhongguancun Life Science Park, Changping District, Beijing, 100080, China
Wanshi Cai, Xinyi Hang & Wubin Qu
Illumina Inc., 5200 Illumina Way, San Diego, CA, 92122, USA
Jennifer S. LoCoco, Nathan Haseley & Claire Attwooll
Research and Development, QIAGEN Sciences Inc., Frederick, MD, 21703, USA
Eric Lader, Chang Xu & Yexun Wang
Market & Application Development Bioinformatics, Roche Sequencing Solutions Inc., 4300 Hacienda Dr, Pleasanton, CA, 94588, USA
Todd A. Richmond
Thermo Fisher Scientific, 110 Miller Ave, Ann Arbor, MI, 48104, USA
Vinay K. Mittal
Clinical Diagnostic Division, Thermo Fisher Scientific, 46500 Kato Rd, Fremont, CA, 94538, USA
Liang-Chun Liu
Winthrop P Rockefeller Cancer Institute, University of Arkansas for Medical Sciences, 4301 W Markham St, Little Rock, AR, 72205, USA
Donald J. Johann Jr
Departments of Medicine, Pathology, and Cancer Biology, College of Medicine and Life Sciences, University of Toledo Health Sciences Campus, 3000 Arlington Ave, Toledo, OH, 43614, USA
James C. Willey
National Institute of Environmental Health Sciences, Research Triangle Park, NC, 27709, USA
Pierre R. Bushel
Department of Immunology, Genomics and Microarray Core Facility, University of Texas Southwestern Medical Center, 5323 Harry Hine Blvd, Dallas, TX, 75390, USA
Guangchun Chen & Quan-Zhen Li
Research and Development, Roche Sequencing Solutions Inc., 500 South Rosa Rd, Madison, WI, 53719, USA
Daniel Burgess
Clinical Sequencing Division, Thermo Fisher Scientific, 180 Oyster Point Blvd, South San Francisco, CA, 94080, USA
Simon Cawley
Marketing, Integrated DNA Technologies, Inc., 1710 Commercial Park, Coralville, IA, 52241, USA
Kristina Giorda
Icahn Institute and Dept. of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai, 1425 Madison Ave, New York, NY, 10029, USA
Hanane Arib, Robert Sebra, Melissa Smith & Maya Strahl
Greenwood Genetic Center, 106 Gregor Mendel Circle, Greenwood, SC, 29646, USA
Kevin Babson, Alka Chaubey, Jessica Cooley Coleman & Brittany Hennigan
Department of Pathology, Fudan University Shanghai Cancer Center, Fudan University, Shanghai, 200032, China
Longlong Bao, Yonghui Tao & Xiaoyan Zhou
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 200032, China
Longlong Bao, Yonghui Tao & Xiaoyan Zhou
Institute of Pathology, Fudan University, Shanghai, 200032, China
Longlong Bao, Yonghui Tao & Xiaoyan Zhou
JMP Life Sciences, SAS Institute Inc., Cary, NC, 27519, USA
Wenjun Bao & Meijian Guan
Departments of Pathology and Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, 84108, USA
Hunter Best
R&D Genomics MPS, Institute for Clinical and Experimental Pathology ARUP Laboratories, 500 Chipeta Way, Salt Lake City, UT, 84108, USA
Hunter Best, Devin Close, Paul Rindler & Philippe Szankasi
ResearchDx, Inc., 5 Mason, Irvine, CA, 92618, USA
Ambica Bhandari, Abhisek Ghosal, Kyle Horvath, Rebecca Ringler & Suman Verma
Department of Computer Science, Engineering and Physics, University of Michigan-Flint, Flint, MI, 48502, USA
Halil Bisgin
Garvan Institute of Medical Research, Sydney, NSW, Australia
James Blackburn
St Vincent’s Clinical School, University of New South Wales, Sydney, NSW, 2010, Australia
James Blackburn & David Thomas
Department of Pathology, College of Medicine and Life Sciences, The University of Toledo, Toledo, OH, 43614, USA
Thomas M. Blomquist
Lucas County Coroner’s Office, 2595 Arlington Ave., Toledo, OH, 43614, USA
Thomas M. Blomquist
Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN, 55905, USA
Lisa Boardman
OmniSeq, Inc. 700 Ellicott St, Buffalo, NY, 14203, USA
Blake Burgher, Jeffrey Conroy & Sean Glenn
Department of Physiology and Biophysics, Weill Cornell Medicine, Cornell University, New York, NY, 10065, USA
Daniel J. Butler, Christopher R. Chin, Jonathan Foox & Christopher E. Mason
Stanford Genome Technology Center, Stanford University, Palo Alto, CA, 94304, USA
Chia-Jung Chang & Wenzhong Xiao
Division of Genetic and Molecular Toxicology, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, 72079, USA
Tao Chen & Barbara L. Parsons
Fondazione Bruno Kessler, 38123, Trento, Italy
Marco Chierici & Cesare Furlanello
Department of Medicine, College of Medicine and Life Sciences, The University of Toledo, Toledo, OH, 43614, USA
Daniel J. Craig & Erin Crawford
Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, CIBERER Instituto de Salud Carlos III, 28046, Madrid, Spain
Angela del Pozo, Mario Solís López & Elena Vallespin Garcia
EATRIS ERIC- European Infrastructure for Translational Medicine, De Boelelaan 1118, 1081 HZ, Amsterdam, The Netherlands
Angela del Pozo, Pablo Lapunzina, Andreas Scherer, Mario Solís López, Boris Tichý, Nikola Tom & Elena Vallespin Garcia
Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia
Ira W. Deveson & David Thomas
St Vincent’s Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia
Ira W. Deveson
Cancer Genetics Inc, 201 Route 17 N, Meadows Office Building, Rutherford, NJ, 07070, USA
Daniel Duncan, Charles Ma, Narasimha Marella, Rita Shaknovich & Venkat J. Thodima
Institute for Personalized Cancer Therapy, MD Anderson Cancer Center, 6565 MD Anderson Blvd, Houston, TX, 77030, USA
Agda Karina Eterovic, Ping Song & Lin-ya Tang
Pharmaceutical Informatics Institute, College of Pharmaceutical Sciences, Zhejiang University, Hangzhou, 310058, Zhejiang, China
Xiaohui Fan
HK3 Lab, Milan, Italy
Cesare Furlanello
Molecular Laboratory, Prof. F. Raue, Im Weiher 12, Heidelberg, Germany
Christine Haag
Agilent Technologies, 1834 State Hwy 71 West, Cedar Creek, TX, 78612, USA
Scott Happe
Department of Pathology, Strata Oncology, Inc., Ann Arbor, MI, 48103, USA
Jennifer Hipp
Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Plaza, Houston, TX, 77030, USA
Jianhong Hu, Qingchang Meng, Donna Muzny & Kimbley Walker
Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA
Li-Yuan Hung, Peng Li & Wenzhong Xiao
NGS Products and Services, Integrated DNA Technologies, Inc., 1710 Commercial Park, Coralville, IA, 52241, USA
Mirna Jarosz
Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, 800 Commissioners Rd E, London, Ontario, N6A5W9, Canada
Jennifer Kerkhof, Bekim Sadikovic & Alan Stuart
Division of Anatomic Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA
Benjamin Kipp
Bioinformatics Research, Institute of Molecular Biotechnology, Boku University Vienna, Vienna, Austria
David Philip Kreil
Małopolska Centre of Biotechnology, Jagiellonian University, Krakow, Poland
Paweł Łabaj
Department of Biotechnology, Boku University, Vienna, Austria
Paweł Łabaj
Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPaz, CIBERER Instituto de Salud Carlos III, 28046, Madrid, Spain
Pablo Lapunzina
ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability, European Commission, Lille, France
Pablo Lapunzina
Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences, No.17, Panjiayuan Nanli, Chaoyang District, Beijing, 100021, China
Weihua Li & Jianming Ying
Center of Genome and Personalized Medicine, Institute of Cancer Stem Cell, Dalian Medical University, Dalian, 116044, Liaoning, China
Zhiguang Li
Geneis, 5 Guangshun North St., Chaoyang District, Beijing, 100102, China
Yu Liang
GeneSmile Ltd Co., Jiangsu Cancer Hospital, 42 Baiziting St., Xuanwu District, Nanjing, 210009, Jiangsu, China
Shaoqing Liu
Genycell Biotech España, Calle Garrido Atienza, 18320 Santa Fe, Granada, Spain
Rubén Martín-Arenas
CMINDS Research Center, Department of Electrical and Computer Engineering, College of Engineering, University of Massachusetts Lowell, Lowell, MA, 01854, USA
Dalila B. Megherbi
Department of Genetics, University of North Carolina, 250 Bell Tower Drive, Chapel Hill, NC, 27599, USA
Piotr A. Mieczkowski
Accugenomics, Inc., 1410 Commonwealth Drive, Suite 105, Wilmington, NC, 20403, USA
Tom Morrison
Translational Research Laboratory, Belfer Center for Applied Cancer Science, Dana-Farber Cancer Institute, 360 Longwood Ave, Boston, MA, 02215, USA
Cloud P. Paweletz & Julianna Supplee
Bioinformatics and Computational Biology Laboratory, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD, 20892, USA
Mehdi Pirooznia
Astrazeneca Pharmaceuticals, 35 Gatehouse Dr, Waltham, MA, 02451, USA
Amelia Raymond & Daniel Stetson
Department of Pathology and Laboratory Medicine, Western University, London, Ontario, N6A3K7, Canada
Bekim Sadikovic
Institute for Molecular Medicine Finland (FIMM), Nordic EMBL Partnership for Molecular Medicine, HiLIFE Unit, Biomedicum Helsinki 2U (D302b), P.O. Box 20, (Tukholmankatu 8), FI-00014 University of Helsinki, Helsinki, Finland
Andreas Scherer
Laboratory for Molecular Genetics, Endocrine Practice, Im Weiher 12, 69121, Heidelberg, Germany
Egbert Schulze
Division of Systems Biology, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, 72079, USA
Qiang Shi
Center for Bioinformatics and Computational Biology, and the Institute of Biomedical Sciences, School of Life Sciences, East China Normal University, 500 Dongchuan Rd, Shanghai, 200241, China
Tieliu Shi
National Centre for Cardiovascular Research (CNIC), Madrid, Spain
Juan Carlos Silla-Castro
Primbio Genes Biotechnology, Building C6-501, Biolake, No.666 Gaoxin Ave., East Lake High-tech Development Zone, Wuhan, 430074, Hubei, China
Haowen Tan
National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 8600 Rockville Pike, Bethesda, MD, 20894, USA
Danielle Thierry-Mieg & Jean Thierry-Mieg
Center of Molecular Medicine, Central European Institute of Technology, Masaryk University, Kamenice 5, 625 00, Brno, Czech Republic
Boris Tichý & Nikola Tom
Center for Genomics, School of Medicine, Loma Linda University, Loma Linda, CA, 92350, USA
Charles Wang
Division of Microbiology & Molecular Genetics, Department of Basic Sciences, School of Medicine, Loma Linda University, Loma Linda, CA, 92350, USA
Charles Wang
Center for Individualized Medicine, Mayo Clinic, Scottsdale, AZ, 85259, USA
Junwen Wang & Shun H. Yip
Department of Health Sciences, Mayo Clinic, Scottsdale, AZ, 85259, USA
Junwen Wang
Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Scottsdale, AZ, 85259, USA
Junwen Wang
College of Chemistry, Sichuan University, Chengdu, 610064, Sichuan, China
Zhining Wen
Science for Life Laboratory, Karolinska Institutet, Tomtebodavägen 23B, 171 65, Solna, Sweden
Valtteri Wirta
National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 45 Center Drive, Bethesda, MD, 20894, USA
Chunlin Xiao
Department of Biostatistics, Columbia Mailman School of Public Health, 722 West 168th St., New York, NY, 10032, USA
Shibei Xu
Center for Genomic Sciences, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China
Shun H. Yip
Clinical Laboratory, Burning Rock Biotech, Guangzhou, 510300, Guangdong, China
Guangliang Zhang & Sa Zhang
Geneplus, PKUCare Industrial Park, Changping District, Beijing, 102206, China
Meiru Zhao
Australian Institute of Bioengineering and Nanotechnology, University of Queensland, Brisbane, QLD, Australia
Timothy Mercer
Genomics and Epigenetics Theme, Garvan Institute of Medical Research, Sydney, NSW, Australia
Timothy Mercer
Human Phenome Institute, Fudan University, Shanghai, 201203, China
Leming Shi
Fudan-Gospel Joint Research Center for Precision Medicine, Fudan University, Shanghai, 200438, China
Leming Shi
Q2 Solutions - EA Genomics, 5927 S Miami Blvd, Morrisville, NC, 27560, USA
Wendell Jones
W.T., L.S., W.J., and J.X. conceived the project. B.G., D.J.J.Jr., J.C.W., W.T., L.S., W.J., and J.X. devised the experiments. N.N. and L. L. prepared the reference samples for cross-laboratory experiments. N.N., C. P-P., Z.Z., K.L., W.C., J.S.L., E.L., T.A.R., V.K.M., C.X.,D.B., S.C., K.G., N.H., F.Q., K.W., C.A., S.H., M.J.,W.Q., A.S., Y.W., G.Z., and S.Z. coordinated laboratory experiments and/or performed panel-specific variant calling analysis. G.C., H.A., A.B., J.B., B.B., D.J.B., A.C., C.R.C., D.C., J.C., J.C.C., D.J.C., E.C., A.d.P., D.D., A.K.E., J.F., A.G., S.G., C.H., X.H., B.H., J.H., K.H., J.H., J.K., B.K., P.L., Q.L., W.L., Y.L., S.L., C.M., N.M., R.M-A., Q.M., P.A.M., D.M., C.P.P., A.R., P.R., R.R., B.S., E.S., R.S., R.S., J.C.S-C., M.S., M.S.L., P.S., D.S., M.S., A.S., J.S., P.S., H.T., L.T., Y.T., V.J.T., D.T., E.V.G., S.V., K.W., V.W., J.Y., S.H.Y., M.Z., X.Z., and C.E.M. performed laboratory experiments. B.G., D.L., Y.Z., S.W., P.R.B., Y.Y., H.B., T.B., L.B.,C.C.,T.C., M.C., I.W.D., X.F., C.F., M.G., H.H., L.H., D.P.K., P.Ł., P.L.,Z.L., Z.L., D.B.M., T.M., B.N., B.L.P., M.P., Q.S., T.S., S. T, D.T-M., J.T-M., B.T., N.T., C.W., J.W., Z.W., L.W., C.X., W.X., S.X., M.Y., Y.Z., and T.M. contributed to data analysis. B.G., D.L., Y.Z., and S.W. prepared the figures. R.K., B.G., D.L., W.J., L.S., and J.X. prepared the manuscript, with support from all co-authors. All authors read and approved the final manuscript.