Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Masahiro Kanai, Juha Karjalainen, Georgia Panagiotaropoulou, Yuanxiang Zhang, Zhili Zheng, Mark J. Daly, Mary Pat Reeve, Mary Pat Reeve, Mitja Kurki, Wei Zhou, Aarno Palotie & Mark J. Daly
Center for Computational and Integrative Biology, Massachusetts General Hospital, Boston, MA, USA
Masahiro Kanai, Georgia Panagiotaropoulou, Yuanxiang Zhang, Kosaku Nanki, Toshimi Yoshida, Kai Liu, Daniel B. Graham & Ramnik J. Xavier
Department of Molecular Biology, Massachusetts General Hospital, Boston, MA, USA
Masahiro Kanai, Kosaku Nanki, Toshimi Yoshida, Kai Liu, Daniel B. Graham & Ramnik J. Xavier
Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland
Masahiro Kanai, Rodosthenis S. Rodosthenous, Juha Karjalainen, Yuanxiang Zhang, Sanni Ruotsalainen, Zhili Zheng, Mark J. Daly, Rodosthenis S. Rodosthenous, Mary Pat Reeve, Mary Pat Reeve, Mitja Kurki, Wei Zhou, Aarno Palotie & Mark J. Daly
Klarman Cell Observatory, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Toni M. Delorey, Shane Murphy, Isabella Teixeira-Soldano, Hee Seung Hwang, Cristin McCabe, Eric Chen, Marla Glean, Nitya Mehrotra, Emily P. Finan, Daniel Chafamo, Yixiao Zhu, Caroline B. M. Porter, Orr Ashenberg & Ramnik J. Xavier
Blood Service Biobank, Finnish Red Cross Blood Service, Vantaa, Finland
Jarno Honkanen, Julianna Juvila, Jussi Halonen, Kimmo Pitkänen & Jukka Partanen
Program in Infectious Disease and Microbiome, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Georgia Panagiotaropoulou, Yuanxiang Zhang, Kosaku Nanki, Toshimi Yoshida, Kai Liu, Daniel B. Graham & Ramnik J. Xavier
Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
Georgia Panagiotaropoulou, Yuanxiang Zhang, Zhili Zheng, Mark J. Daly, Mitja Kurki & Mark J. Daly
Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Georgia Panagiotaropoulou, Yuanxiang Zhang, Zhili Zheng, Mark J. Daly, Mitja Kurki, Wei Zhou, Aarno Palotie & Mark J. Daly
Research and Development, Finnish Red Cross Blood Service, Helsinki, Finland
Mikko Arvas & Jukka Partanen
Department of Genome Informatics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
Yoshihiko Tomofuji, Daiki Tokuyasu, Shinichi Namba, Kyuto Sonehara & Yukinori Okada
Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan
Yoshihiko Tomofuji, Shinichi Namba, Kyuto Sonehara & Yukinori Okada
Department of Neurology, Keio University School of Medicine, Tokyo, Japan
Daiki Tokuyasu
Laboratory of Statistical Immunology, Immunology Frontier Research Center (WPI-IFReC), The University of Osaka, Suita, Japan
Yukinori Okada
Premium Research Institute for Human Metaverse Medicine (WPI-PRIMe), The University of Osaka, Suita, Japan
Yukinori Okada
Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA
Wei Zhou & Aarno Palotie
Gene Lay Institute of Immunology and Inflammation, Brigham and Women’s Hospital, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA
Ramnik J. Xavier
Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan
Koichi Matsuda, Takayuki Morisaki, Natsuhiko Kumasaka & Akiko Nagai
Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan
Koichi Matsuda, Takayuki Morisaki & Akiko Nagai
Department of Respiratory Medicine, Juntendo University Faculty of Medicine and Graduate School of Medicine, Tokyo, Japan
Norihiro Harada & Sonoko Harada
Atopy (Allergy) Research Center, Juntendo University Faculty of Medicine and Graduate School of Medicine, Tokyo, Japan
Sonoko Harada
Department of Hematology, Nippon Medical School, Tokyo, Japan
Yasunobu Nagata, Satoshi Wakita & Hiroki Yamaguchi
AbbVie, Chicago, IL, USA
Bridget Riley-Gillis, Howard Jacob, Jeffrey Waring, Bridget Riley-Gillis, Fedik Rahimov, Adam Ziemann, Nizar Smaoui, Anne Lehtonen, Apinya Lertratanakul, Relja Popovic, Mengzhen Liu, Anneke Den Hollander, Jan Freudenberg, Britney Milkovich, Andrew Blumenfeld & Tushar Kumar
AstraZeneca, Cambridge, UK
Coralie Viollet, Slavé Petrovski, Ioanna Tachmazidou, Dirk Paul, Bram Prins, Eleanor Wheeler, Kousik Kundu, Santosh Atanur, Andrew Lowe, Thomas Spargo, Oliver Burren & Margarete Fabre
Bayer, Leverkusen, Germany
Alix Berton, Santha Ramakrishnan, Fabio Baschiera, Hans van Leeuwen, Himanshu Manchanda, Karl Heilbron, Martin Rao, Nicole Schmidt, Samu Kurki, Johanna Mielke, Juho Immonen, Thomas Battram & Tobias Hogrebe
Biogen, Cambridge, MA, USA
Ellen Tsai, Susan Eaton, Ketian Yu, Stephanie Loomis & Coro Paisan-Ruiz
Boehringer Ingelheim, Ingelheim am Rhein, Germany
Zhihao Ding, Marc Jung, Hanati Tuoken, Elke Markert, Frank Li, Yao Hu, Christoph Ogris, Eric Simon, Julio Cesar Bolivar Lopez & Monika Frysz
Bristol Myers Squibb, New York, NY, USA
Emily Holzinger, Robert Plenge, Joseph Maranville, Shameek Biswas, Benjamin Sun, Marla Hochfeld, Cara Carty, Michael Turchin, Neelakshi Jog, Corneliu Bodea, Janie Shelton, Chen Li, Kritika Singh, Peng Jiang, Stephanie Loomis, Elena Sanchez, Lilith Moss, Zijie Zhao & Anna Podgornaia
Genentech, San Francisco, CA, USA
Mark McCarthy, Rion Pendergrass, Natalie Bowers, Edmond Teng, Tim Lu, Hubert Chen, Jennifer Schutzman, Erich Strauss, Hao Chen, David Choy, Brian Yaspan, Cameron Adams, Michael Rothenberg, Sergio Dellepiane, Anubha Mahajan, Michael Holmes, Diana Chang & Tushar Bhangale
GlaxoSmithKline, Collegeville, PA, USA
Jonathan Davitte, Janet Kumar, Charli Harlow, Lea Sarow-Blat, Diana L. Cousminer, Jagtar Nijjar, Jessica Chao, Michal Magid, Shashank Jariwala, Chris Floyd, Dan Swerdlow, Erding Hu, Prerak Desai, Stephen Haddad, Damien Croteau-Chonka, Billy Fahy & Paola Bronson
Merck, Kenilworth, NJ, USA
Chia-Yen Chen, Neha Raghavan, Jae-Hoon Sul, Jason Miller, Fabiana Farias, Andrey Loboda, Jorge Del-Aguila, Elisabeth Vollmann, Jozsef Karman, Julie Fiore, Rajesh Kamath, Andrei Popescu, Delphine Fagegaltier, Travis Barr, Aristide Merola, Oliver Freeman & Simonne Longerich
Pfizer, New York, NY, USA
Melis Atalar Aksit, Anna Vlahiotis, Xinli Hu, Kirsi Kalpala, Melissa Miller, Nan Bing, Jaakko Parkkinen, Heli Lehtonen, Stefan McDonough, Ying Wu, Erin Macdonald-Dunlop, Jessica Chung, Michael McLean, Joshua Chiou, Hye In Kim, Sivakumar Pitchumani, Sumedha Jassal & Madhurima Saxena
Translational Sciences, Sanofi R&D, Framingham, MA, USA
Katherine Klinger, Clement Chatelain, Jorg Blankenstein, Catherine O’Riordan, Samuel Lessard, Suzanne Jacobs, Hamid Mattoo, David Habiel & Guanling Huan
Maze Therapeutics, San Francisco, CA, USA
Karol Estrada, Robert Graham, Sahar Mozaffari & Christopher DeBoever
Johnson & Johnson Innovative Medicine, Spring House, PA, USA
Dawn Waterworth, Karen He, Ekaterina Khramtsova, Amy Hart, Meijian Guan, Alessandro Porello, P. Dunnmon, Sara Gale, Brice Keyes, John Kwon, Jonathan Sherlock, Matt Loza, Chris Whelan, W. Galpern, Yanfei Zhang, Mona Selej & Abolfazl Doostparast Torshizi
Novartis Institutes for BioMedical Research, Cambridge, MA, USA
Chris O’Donnell, Nicole Renaud, Ma’en Obeidat, Jonathan Chung, Jonas Zierer, Mari Niemi, Enrico Ferrero, Nikos Patsopoulos, Nancy Finkel, Sabina Pfister, Shola Richards, Katherine McCauley, Xiaobo Xia & Mike Mendelson
HiLIFE, University of Helsinki, Helsinki, Finland
Tomi P. Mäkelä
Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland
Jaakko Kaprio, Samuli Ripatti, Felix Vaura, Nina Mars, Esa Pitkänen, Hannele Laivuori, Katja Kivinen, Elisabeth Widen, Taru Tukiainen, Hanna Ollila, Elmo Saarentaus, Anne Kerola, Eero Vuoksimaa, Joni Lindbohm, Zhiyu Yang, Matthew Sampson, Adrian Banerji, Michelle McNulty, Aoxing Liu, Joel Rämö, Austin Argentieri, Amanda Elliott, Anu Jalanko, Risto Kajanne, Mervi Aavikko, Helen Cooper, Denise Öller, Tarja Laitinen, Auli Toivola, Pietro Della Briotta Parolo, Arto Lehisto, Juha Mehtonen, Reza Jabal, Mutaamba Maasha, Samuel Jones, Raymond Walters, Paavo Häppölä, L. Elisa Lahtela, Johanna Paltta, Juulia Partanen, Mari Kaunisto, Elina Kilpeläinen, Tianduanyi Wang, Timo P. Sipilä, Oluwaseun Alexander Dada, Awaisa Ghazal, Rigbe Weldatsadik, Jaska Uimonen, Kati Donner, Susanna Lemmelä, Shanmukha Sampath Padmanabhuni, Marika Kaakinen, Shuang Luo, Vincent Llorens, Dawit Yohannes & Iina Laak
Arctic Biobank, Oulu, Finland
Minna Ruddock
University of Oulu, Oulu, Finland
Minna Ruddock, Teija Kekonen, Raisa Serpi, Reetta Hinttala, Johannes Kettunen, Heidi Silven, Eeva Sliz, Riikka Arffman, Susanna Savukoski, Riitta Kaarteenaho & Jaakko Tyrmi
Auria Biobank, Turku, Finland
Lila Kallio, Antti Hakanen & Johanna Schleutker
University of Turku, Turku, Finland
Lila Kallio, Antti Hakanen, Johanna Schleutker, Laura Kuusalo, Laura Pirilä, Tapio Hellman, Matti Vuori, Teemu Niiranen & Johanna Paltta
Wellbeing Services County of Southwest Finland, Turku, Finland
Lila Kallio, Antti Hakanen, Johanna Schleutker, Laura Pirilä, Juha Rinne, Roosa Kallionpää, Markku Voutilainen, Antti Palomäki, Riitta Lahesmaa, Kaj Metsärinne, Jenni Aittokallio, Klaus Elenius, Sirkku Peltonen, Leena Koulu, Ulvi Gursoy, Varpu Jokimaa & Tytti Willberg
THL Biobank, Helsinki, Finland
Terhi Kilpi, Markus Perola, Tiina Wahlfors, Päivi Laiho, Teemu Paajanen, Arto Pietilä & Aki Havulinna
Finnish Institute for Health and Welfare (THL), Helsinki, Finland
Terhi Kilpi, Markus Perola, Tiina Wahlfors, Veikko Salomaa, Jaana Suvisaari, Teemu Niiranen, Päivi Laiho, Teemu Paajanen, Arto Pietilä & Aki Havulinna
Helsinki Biobank, Helsinki, Finland
Taneli Raivio, Eero Punkka, Olli Carpén & Anu Loukola
Helsinki University and Hospital District of Helsinki and Uusimaa, Helsinki, Finland
Taneli Raivio, Eero Punkka, Olli Carpén & Anu Loukola
Northern Finland Biobank Borealis, Oulu, Finland
Teija Kekonen, Raisa Serpi, Reetta Hinttala & Johannes Kettunen
Wellbeing Services County of North Ostrobothnia, Oulu, Finland
Teija Kekonen, Raisa Serpi, Reetta Hinttala, Johannes Kettunen, Timo Blomster, Johanna Huhtakangas, Terttu Harju, Kaisa Tasanen, Laura Huilaja, Vuokko Anttonen, Marja Vääräsmäki, Outi Uimari, Laure Morin-Papunen, Maarit Niinimäki & Terhi Piltonen
Finnish Clinical Biobank Tampere, Tampere, Finland
Kati Kristiansson, Sanna Siltanen & Mika Kähönen
University of Tampere, Tampere, Finland
Kati Kristiansson, Sanna Siltanen, Mika Kähönen, Jaakko Tyrmi, Harri Siirtola & Javier Gracia-Tabuenca
Wellbeing Services County of Pirkanmaa, Tampere, Finland
Kati Kristiansson, Sanna Siltanen, Mika Kähönen, Jukka Peltola, Airi Jussila, Katri Kaukinen, Pia Isomäki, Jussi Hernesniemi, Annika Auranen, Hannu Uusitalo, Teea Salmi, Venla Kurra, Laura Kotaniemi-Talonen & Argyro Bizaki-Vallaskangas
Biobank of Eastern Finland, Kuopio, Finland
Veli-Matti Kosma, Arto Mannermaa & Hanna Kujala
University of Eastern Finland, Kuopio, Finland
Veli-Matti Kosma, Arto Mannermaa, Hanna Kujala, Pirkko Pussinen, Mikko Hiltunen & Eino Solje
Wellbeing Services County of North Savo, Kuopio, Finland
Veli-Matti Kosma, Arto Mannermaa, Hanna Kujala, Valtteri Julkunen, Reetta Kälviäinen, Hilkka Soininen, Mikko Kiviniemi, Oili Kaipiainen-Seppänen, Margit Pelkonen, Päivi Auvinen, Maria Siponen, Liisa Suominen, Päivi Mäntylä & Kai Kaarniranta
Central Finland Biobank, Jyväskylä, Finland
Jari Laukkanen & Tiina Jokela
University of Jyväskylä, Jyväskylä, Finland
Jari Laukkanen, Tiina Jokela & Eija Laakkonen
Wellbeing Services County of Central Finland, Jyväskylä, Finland
Jari Laukkanen & Tiina Jokela
Finnish Biobank Cooperative—FINBB, Turku, Finland
Mervi Ahlroth, Johanna Mäkelä, Johanna Mäkelä, Pauli Wihuri, Tom Southerington & Meri Lähteenmäki
Business Finland, Helsinki, Finland
Outi Tuovila
Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland
Katriina Aalto-Setälä
Estonian Biobank, Tartu, Estonia
Triin Laisk & Natalia Pujol
Finnish Red Cross Blood Service, Helsinki, Finland
Satu Koskela & Jouni Lauronen
Finnish Hematology Registry and Clinical Biobank, Helsinki, Finland
Satu Koskela & Jouni Lauronen
Helsinki University Central Hospital, Helsinki, Finland
Kristiina Aittomäki
Helsinki University Hospital and University of Helsinki, Helsinki, Finland
Pirkko Pussinen, Tuomo Meretoja, Heikki Joensuu, Peeter Karihtala, Emma Juuri, Aino Salminen, Tuula Salo, David Rice, Pekka Nieminen, Ulla Palotie, Fredrik Åberg, Daniel Gordin, Patrik Finne, Joni A. Turunen & Sanna Toppila-Salmi
Hospital District of Helsinki and Uusimaa, Helsinki, Finland
Daniel Gordin, Minna Raivio, Pentti Tienari, Martti Färkkilä, Jukka Koskela, Sampsa Pikkarainen, Kari Eklund, Paula Kauppi, Juha Sinisalo, Marja-Riitta Taskinen, Tiinamaija Tuomi, Timo Hiltunen, Johanna Mattson, Eveliina Salminen, Terhi Ollila, Katariina Hannula-Jouppi, Oskari Heikinheimo, Ilkka Kalliala, Lauri Aaltonen, Erkki Isometsä, Antti Aarnisalo, Ilkka Immonen, Salla Ranta & Filip Scheperjans
Folkhälsan Research Center, Helsinki, Finland
Joni A. Turunen
Harvard Medical School, Boston, MA, USA
Matthew Sampson, Adrian Banerji & Michelle McNulty
Broad Institute, Cambridge, MA, USA
Matthew Sampson, Adrian Banerji, Michelle McNulty, Aoxing Liu, Joel Rämö, Austin Argentieri, Amanda Elliott, Reza Jabal, Mutaamba Maasha & Raymond Walters
Massachusetts General Hospital, Boston, MA, USA
Amanda Elliott
Northern Ostrobothnia Hospital District, Oulu, Finland
Elisa Rahikkala
Oulu University Hospital and University of Oulu, Oulu, Finland
Kirsi Sipilä
University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland
Valtteri Julkunen, Ville Leinonen & Sanna Toppila-Salmi
University of Gothenburg, Gothenburg, Sweden
Hannu Kankaanranta
Seinäjoki Central Hospital, Seinäjoki, Finland
Hannu Kankaanranta
Tampere University, Tampere, Finland
Hannu Kankaanranta
University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Antti Mäkitie
University of Helsinki, Helsinki, Finland
Iiris Hovatta, Niko Välimäki, Minttu Marttila, Anne Portaankorva & Sofia Kuitunen
University of Lodz, Lodz, Poland
Kai Kaarniranta
GlaxoSmithKline, Brentford, UK
Fanli Xu, Laura Addis, John Eicher, Linda McCarthy, Jorge Esparza Gordillo, Joanna Betts, Rajashree Mishra, Audrey Chu & Diptee Kulkarni
GlaxoSmithKline, Espoo, Finland
Kirsi Auro
GlaxoSmithKline, Stevenage, UK
David Pulford
Janssen-Cilag Oy, Espoo, Finland
Sauli Vuoti
Johnson & Johnson Innovative Medicine, Boston, MA, USA
Dermot Reilly
Johnson & Johnson Innovative Medicine, Titusville, NJ, USA
Qingqin S. Li
Novartis, Basel, Switzerland
Majd Mouded & Debby Ngo
M. Kanai, A.P., D.B.G., M.J.D. and R.J.X. conceived and designed the study. J. Honkanen, R.S.R., J.J., J. Halonen, M.A., K.P. and J.P. coordinated sample collection at the Finnish Red Cross Blood Service. T.M.D., S.M., I.T.-S., C.M., K.N., T.Y., K.L., M.G., N.M. and E.P.F. performed single-cell experiments. M. Kanai, H.S.H., E.C., D.C., Y. Zhu and C.B.M.P. processed multiome data. M. Kanai, R.S.R., J.K., G.P., Y. Zhang, S.R., Z.Z., M.P.R., M. Kurki, O.A. and W.Z. performed statistical analyses. M. Kanai developed the CASCADE framework, software and interactive browser. M. Kanai, Y.T., D.T., S.N., K.S. and Y.O. performed the BioBank Japan replication analyses. M.J.D. and R.J.X. jointly supervised the study. M. Kanai, D.B.G., M.J.D. and R.J.X. wrote the manuscript. All of the authors read, revised and approved the final manuscript.
