SNP calling, haplotype phasing and allele-specific analysis with long RNA-seq reads

Department of Data Science, Dana-Farber Cancer Institute, Boston, MA, USA

Neng Huang, Heng Li, Yan Gao, Maximillian G. Marin & Ying Zhou

Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA

Neng Huang, Heng Li & Maximillian G. Marin

Center for Genomic Discovery, Mohammed Bin Rashid University, Dubai Health, Dubai, United Arab Emirates

Ahmad Abou Tayoun

Dubai Health Genomic Medicine Center, Dubai Health, Dubai, United Arab Emirates

Ahmad Abou Tayoun

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 Garza, Tina Graves-Lindsay, Milinn Kremitzki, Juan F. Macias-Velasco, Chad Tomlinson & Ting Wang

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, 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 AS Tierney & Francesca Floriana Tricomi

Center for Applied and Translational Genomics, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates

Alawi A. Alsheikh-Ali, Mohammad Amiruddin Hashmi, Nasna Nassir & Mohammed Uddin

Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA

Casey Andrews, Zheng Dong, Qichen Fu, Juan Jiang, Milinn Kremitzki, Xiaoyu Zhuo, Heather A. Lawson, Daofeng Li, Tianjie Liu, Juan F. Macias-Velasco, Christopher Markovic, Ting Wang, Zilan Xin, Zheng Xu & Wenjin Zhang

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, Santa Cruz, CA, USA

Mobin Asri, Halle D. Bender, Andrew P. Blair, Ann M. Mc Cartney, Monika Cechova, Xian Chang, Mark Diekhans, Jordan M. Eizenga, Parsa Eskandar, Joshua M. V. Gardner, Margarita Geleta, 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, Benedict Paten, Hiram Clawson, Anandi Radhakrishnan, Brian J. Raney, Jouni Sirén & Ivo Violich

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA

Marcelo Ayllon, Evan E. Eichler, Gage H. Garcia, Jiadong Lin, Katherine M. Munson, Lingbin Ni, David Porubsky, Luyao Ren, Andrew B. Stergachis & DongAhn Yoo

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

The Translational Genomics Research Institute, Phoenix, AZ, USA

Floris P. Barthel, Yue Hao, Maryam Jehangir & T. Rhyker Ranallo-Benavidez

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

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, Montreal, Quebec, Canada

Guillaume Bourque

Department of Human Genetics, McGill University, Montreal, Quebec, Canada

Guillaume Bourque

Victor Phillip Dahdaleh Institute of Genomic Medicine, Montreal, Quebec, Canada

Guillaume Bourque

Google LLC, 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, 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 and Outcomes, Arizona State University, Washington, DC, USA

Robert Cook-Deegan

Center for Digital Medicine, Heinrich Heine University Düsseldorf, Düsseldorf, Germany

Daniel Doerr, Jana Ebler, Peter Heringer, Tobias Marschall & Arda Söylev

Department for Endocrinology and Diabetology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany

Daniel Doerr & Peter Heringer

German Diabetes Center (DDZ), Leibniz Institute for Diabetes Research, Düsseldorf, Germany

Daniel Doerr & Peter Heringer

University of Cambridge, Cambridge, UK

Richard Durbin & Nicole Soranzo

Wellcome Sanger Institute, Genome Campus, Hinxton, UK

Richard Durbin & Nicole Soranzo

Institute for Medical Biometry and Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany

Jana Ebler, Tobias Marschall & Arda Söylev

Howard Hughes Medical Institute, Chevy Chase, MD, USA

Evan E. Eichler, Erich D. Jarvis & Luyao Ren

ISEM, University of 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, Melissa Gymrek & Aarushi Sehgal

Department of Bioethics and Humanities, University of Washington School of Medicine, Seattle, WA, USA

Stephanie M. Fullerton

Department of Anthropology, University of Kansas, Lawrence, KS, USA

Obed A. Garcia

University of Manchester, Manchester, UK

Shilpa Garg

Traditional, ancestral and unceded territory of the Gabrielino/Tongva peoples, Institute for Society and 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 and Health Services Research, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA

Nanibaa’ A. Garrison

Medical and Population Genomics Lab, Sidra Medicine, Doha, Qatar

Mohammadmersad Ghorbani, Younes Mokrab & Shabir Moosa

Montreal Heart Institute, Montreal, Quebec, Canada

Cristian Groza

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 Genetics, Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA

Jonathan LoTempio Jr & Glennis A. Logsdon

Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA

Ben Langmead, Michael C. Schatz & Vikram S. Shivakumar

Sun Yat-sen University, Guangzhou, China

Jianguo Lu

Edison Family Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO, USA

Juan F. Macias-Velasco & Ting Wang

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

Coriell Institute for Medical Research, Camden, NJ, USA

Matthew W. Mitchell & Laura B. Scheinfeldt

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 S.L., 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, Kashiwa, Japan

Shinichi Morishita, Chie Owa & Yoshihiko Suzuki

University of Pisa, Pisa, Italy

Njagi Mwaniki & Nadia Pisanti

Institute of Genetics and Biomedical Research, UoS of Milan, National Research Council, Milan, Italy

Clelia Peano

Institute for Molecular Medicine Finland, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland

Mikko Rautiainen

Department of Biology, Johns Hopkins University, Baltimore, MD, USA

Michael C. Schatz

University of Amsterdam, Amsterdam, The Netherlands

Mahsa Shabani

GenomeArc Inc., 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