Fei Liu、Kai Wang、Hui Xu、Cheng Tang、Xian Shen、Meihao Wang、Lei Yang、Li Yang、Li Liu、Changxi Hu、Gen Li、Wei Wu、Zixing Zou、Bingzhou Li、Sian Liu、Jin Kang、Jungho Kong、Ting Li、Io Nam Wong、Xiaoying Huang、Gang Chen、Wenyang Lu、Ian Ziyar、Charlotte L Zhang、Yiwen Sun、Weihong Lin、Caiwen Ou、Manson Fok、Taiwa Hou、Winston Wang、Kanmin Xue、Yun Yin、Hao Zhu、Jonathan Gootenberg、Omar O Abudayyeh、Michael Karin、Alexandre Loupy、John E J Rasko、Trey Ideker、Huiyan Luo、Eric Oermann、Kang Zhang、International Consortium of Digital Twins in Healthcare and Medicine
作者机构
Clinical Data Science Institute, State Key Laboratory of Macromolecular Drugs and Large-scale Manufacturing, and The Zhejiang Key Laboratory of Intelligent Cancer Biomarker Discovery and Translation, the First Affiliated Hospital, Wenzhou Medical University, Wenzhou, China; Department of Urology, State Key Laboratory of Molecular Oncology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China; Artificial Intelligence Cross Disciplinary Research Institute, Faculty of Medicine, Macau University of Science and Technology, Macau, China; Guangzhou National Laboratory, Guangzhou, China.
Artificial Intelligence Cross Disciplinary Research Institute, Faculty of Medicine, Macau University of Science and Technology, Macau, China; State Key Laboratory of Eye Health, Eye Hospital, Wenzhou Medical University, Wenzhou, China.
Clinical Data Science Institute, State Key Laboratory of Macromolecular Drugs and Large-scale Manufacturing, and The Zhejiang Key Laboratory of Intelligent Cancer Biomarker Discovery and Translation, the First Affiliated Hospital, Wenzhou Medical University, Wenzhou, China; State Key Laboratory of Eye Health, Eye Hospital, Wenzhou Medical University, Wenzhou, China.
Clinical Data Science Institute, State Key Laboratory of Macromolecular Drugs and Large-scale Manufacturing, and The Zhejiang Key Laboratory of Intelligent Cancer Biomarker Discovery and Translation, the First Affiliated Hospital, Wenzhou Medical University, Wenzhou, China; Department of General Surgery, Department of Hepatobiliary Surgery, Zhejiang-Germany Interdisciplinary Joint Laboratory of Hepatobiliary-Pancreatic Tumor and Bioengineering, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China.
Department of Radiology, The Second Affiliated Hospital of Wenzhou Medical University, Wenzhou, China; Key Laboratory of Intelligent Medical Imaging of Wenzhou, Healthcare Center, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China.
Department of Orthopedics, Key Laboratory of Hepatosplenic Surgery of Ministry of Education, the First Affiliated Hospital, Harbin Medical University, Harbin, China.
Department of Respiratory and Critical Care Medicine, Center for Big Data and Intelligent Medicine, the First Affiliated Hospital of Chongqing Medical University, Key Laboratory of Digital Health and Intelligent Medicine, Chongqing Municipal Health Commission, Chongqing Translational Medicine Center, Chongqing, China.
Department of Health Management, Department of Infectious Diseases, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Department of Big Data and Biomedical AI, College of Future Technology, Peking University, Peking-Tsinghua Center for Life Sciences, Beijing, China.
Artificial Intelligence Cross Disciplinary Research Institute, Faculty of Medicine, Macau University of Science and Technology, Macau, China; Guangzhou National Laboratory, Guangzhou, China.
Artificial Intelligence Cross Disciplinary Research Institute, Faculty of Medicine, Macau University of Science and Technology, Macau, China.
Departments of Medicine and Bioengineering, Moores Cancer Center, School of Medicine, UC San Diego, CA, USA.
Division of Pulmonary Medicine, the First Affiliated Hospital, Wenzhou Medical University, Wenzhou Key Laboratory of Interdisciplinary and Translational Medicine, Wenzhou Key Laboratory of Heart and Lung, Wenzhou, Zhejiang, China.
Nepean Hospital, Sydney, Australia.
Key Laboratory of Intelligent Medical Imaging of Wenzhou, Healthcare Center, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China.
Dongguan Hospital, Southern Medical University, Guangzhou, China.
Conde S. Januario Hospital, Macau, China.
Department of Internal Medicine, Mayo Clinic, Arizona, USA.
Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Clinical Data Science Institute, State Key Laboratory of Macromolecular Drugs and Large-scale Manufacturing, and The Zhejiang Key Laboratory of Intelligent Cancer Biomarker Discovery and Translation, the First Affiliated Hospital, Wenzhou Medical University, Wenzhou, China; Faculty of Health and Wellness, Faculty of Business, City University of Macau, Taipa, Macau SAR, China.
Division of Engineering in Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; Gene and Cell Therapy Institute, Mass General Brigham, Cambridge, MA, USA.
Université Paris Cité, INSERM U970 PARCC, Paris Institute for Transplantation and Organ Regeneration, F-75015 Paris, France; Department of Kidney Transplantation, Assistance Publique - Hôpitaux de Paris, Paris, France.
Artificial Intelligence Cross Disciplinary Research Institute, Faculty of Medicine, Macau University of Science and Technology, Macau, China; Biomedical Pioneering Innovation Center (BIOPIC), School of Life Sciences, Peking University, Beijing, China.
Departments of Medicine and Bioengineering, Moores Cancer Center, School of Medicine, UC San Diego, CA, USA; Big Data Institute, Oxford University, Oxford, UK.
Department of Medical Oncology, Sun Yat-Sen University Cancer Center, State Key Laboratory of Oncology in South China, Guangdong Provincial Clinical Research Center for Cancer, Guangzhou, China.
Departments of Neurosurgery, Radiology, and Data Science, Neuroscience Institute, NYU Langone Medical Center, New York University, New York, NY, USA.
Clinical Data Science Institute, State Key Laboratory of Macromolecular Drugs and Large-scale Manufacturing, and The Zhejiang Key Laboratory of Intelligent Cancer Biomarker Discovery and Translation, the First Affiliated Hospital, Wenzhou Medical University, Wenzhou, China; Artificial Intelligence Cross Disciplinary Research Institute, Faculty of Medicine, Macau University of Science and Technology, Macau, China; Guangzhou National Laboratory, Guangzhou, China; State Key Laboratory of Eye Health, Eye Hospital, Wenzhou Medical University, Wenzhou, China. Electronic address: kang.zhang@gmail.com.
技术路线
3.67 million individuals/17.7 million clinical visits (COMPASS cohort, longitudinal EHR + chest X-ray) → Oncoformer unified multimodal transformer analysis → validation on independent external cohorts including UK Biobank, with staging independently validated against postoperative pathological endpoints and convergence on core cancer genomic pathways
Ximing Ran、Joanne Wuu、Zhaohui S Qin、Michael P McDermott、Johnathan Cooper-Knock、Yindi Li、Volkan Granit、Anne-Laure Grignon、Elizabeth Lin、Maria Catalina Fernandez、Danielle Colato、Nathan Carberry、Christina M Lill、Paolo Piazza、Andrea Malaspina、Michael Benatar
作者机构
Department of Biostatistics and Bioinformatics, Emory University, Atlanta, GA, USA.
Department of Computer Science, Emory University, Atlanta, GA, USA.
Department of Neurology and ALS Center, University of Miami Miller School of Medicine, Miami, FL, USA.
Department of Biostatistics and Computational Biology, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA.
Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA.
Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.
NIHR Sheffield Biomedical Research Centre, Sheffield, UK.
Department of Neuromuscular Diseases, UCL Queen Square Motor Neuron Disease Center, UCL Queen Square Institute of Neurology, University College London, London, UK.
Institute of Epidemiology and Social Medicine, University of Münster, Münster, Germany.
Ageing and Epidemiology Unit (AGE), School of Public Health, Imperial College London, London, UK.
Nuffield Department of Medicine, Centre for Human Genetics, University of Oxford, Oxford, UK.
Department of Neurology and ALS Center, University of Miami Miller School of Medicine, Miami, FL, USA. mbenatar@med.miami.edu.
Fabian Streit、Swapnil Awasthi、Alisha S M Hall、Alice Braun、Maria Niarchou、Eirini Marouli、Oladapo Babajide、Josef Frank、Lea Zillich、Carolin M Callies、Diana Avetyan、Eric Zillich、Joonas Naamanka、Jean Gonzalez、Arvid Harder、Yi Lu、Zouhair Aherrahrou、Zain-Ul-Abideen Ahmad、Helga Ask、Anthony Batzler、Michael E Benros、Odette M Brand-de Wilde、Søren Brunak、Mie T Bruun、Lea A N Christoffersen、Lucía Colodro-Conde、Brandon J Coombes、Elizabeth C Corfield、Norbert Dahmen、Maria Didriksen、Khoa M Dinh、Srdjan Djurovic、Joseph Dowsett、Ole Kristian Drange、Helene Dukal、Susanne Edelmann、Christian Erikstrup、Mariana K Espinola、Eva Fassbinder、Annika Faucon、Diana S Ferreira de Sá、Jerome C Foo、Maria Gilles、Alfonso Gutiérrez-Zotes、Thomas F Hansen、Magnus Haraldsson、R Patrick Harper、Alexandra Havdahl、Urs Heilbronner、Stefan Herms、Henrik Hjalgrim、Christopher Hübel、Gitta A Jacob、Bitten Aagaard、Anders Jorgensen、Martin Jungkunz、Nikolaus Kleindienst、Nora Knoblich、Stefanie Koglin、Julia Kraft、Kristi Krebs、Christopher W Lee、Yuhao Lin、Stefanie Lis、Amanda Lisoway、Ioannis A Malogiannis、Amy Martinsen、Tolou Maslahati、Katharina Merz、Andreas Meyer-Lindenberg、Susan Mikkelsen、Christina Mikkelsen、Arian Mobascher、Gerard Muntané、Asmundur Oddsson、Sisse R Ostrowski、Teemu Palviainen、Ole B V Pedersen、Geir Pedersen、Liam Quinn、Matthias A Reinhard、Florian A Ruths、Björn H Schott、Michael Schredl、Emanuel Schwarz、Cornelia E Schwarze、Michael Schwinn、Tabea Sarah Send、Engilbert Sigurdsson、Katja Simon-Keller、Astros T Skuladottir、Joaquim Soler、Anne Sonley、Erik Sørensen、Hreinn Stefansson、Peter Straub、Jaana Suvisaari、Martin Tesli、Jacob Træholt、Henrik Ullum、Maja P Völker、G Bragi Walters、Rujia Wang、Christian C Witt、Gerhard Zarbock、Peter Zill、John-Anker Zwart、DBDS Genomic Consortium、GLAD Study、HUNT All-In Psychiatry、Ole A Andreassen、Arnoud Arntz、Joanna M Biernacka、Martin Bohus、Gerome Breen、Alexander L Chapman、Sven Cichon、Lea K Davis、Michael Deuschle、Sebastian Euler、Sabine C Herpertz、Benjamin Hummelen、Andrea Jobst、Jaakko Kaprio、James L Kennedy、Kelli Lehto、Klaus Lieb、Lourdes Martorell、Shelley McMain、Richard Musil、Vanessa Nieratschker、Markus M Nöthen、Frank Padberg、Aarno Palotie、Juan C Pascual、Nader Perroud、Josep A Ramos-Quiroga、Ted Reichborn-Kjennerud、Marta Ribases、Stefan Roepke、Dan Rujescu、Sandra Sanchez-Roige、Claudia Schilling、Christian Schmahl、Kari Stefansson、Thorgeir E Thorgeirsson、Gustavo Turecki、Elisabet Vilella、Thomas Werge、Bendik S Winsvold、Johannes Wrege、Marcella Rietschel、Stephan Ripke、Stephanie H Witt
作者机构
Hector Institute for Artificial Intelligence in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany. fabian.streit@zi-mannheim.de.
Department of Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany. fabian.streit@zi-mannheim.de.
Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany. fabian.streit@zi-mannheim.de.
German Center for Mental Health (DZPG), Partner Site Mannheim-Heidelberg-Ulm, Mannheim-Heidelberg-Ulm, Germany. fabian.streit@zi-mannheim.de.
Department of Psychiatry and Psychotherapy, Charité Universitätsmedizin Berlin, Berlin, Germany.
Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
Department of Affective Disorders, Aarhus University Hospital-Psychiatry, Aarhus, Denmark.
Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University London, London, UK.
Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
German Center for Mental Health (DZPG), Partner Site Mannheim-Heidelberg-Ulm, Mannheim-Heidelberg-Ulm, Germany.
Hector Institute for Translational Brain Research, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
Department of Psychiatry and Psychotherapy, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Health Psychology, School of Social Sciences, University of Mannheim, Mannheim, Germany.
Hector Institute for Artificial Intelligence in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
Department of Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
SleepWell Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Department of Psychiatry, University of California San Diego, La Jolla, CA, USA.
Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden.
Institute for Cardiogenetics, University of Lübeck, Lübeck, Germany.
DZHK (German Research Centre for Cardiovascular Research), partner site Hamburg/Lübeck/Kiel, Lübeck, Germany.
University Heart Center Lübeck, Lübeck, Germany.
Social, Genetic and Developmental Psychiatry Centre, Institute of Psychology, Psychiatry and Neuroscience, King's College London, London, UK.
PsychGen Centre for Genetic Epidemiology and Mental Health, Norwegian Institute of Public Health, Oslo, Norway.
Department of Child Health and Development, Norwegian Institute of Public Health, Oslo, Norway.
PROMENTA Research Center, Department of Psychology, University of Oslo, Oslo, Norway.
Department of Quantitative Health Sciences, Division of Computational Biology, Mayo Clinic, Rochester, MN, USA.
Copenhagen Research Centre for Biological and Precision Psychiatry, Mental Health Centre Copenhagen, Copenhagen University Hospital, Copenhagen, Denmark.
Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Netherlands Institute for Personality Disorders, Halsteren, Netherlands.
Department of Public Health & Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Clinical Immunology Research Unit, Department of Clinical Immunology, Odense University Hospital, Odense, Denmark.
Department of Clinical Immunology, Zealand University Hospital, Køge, Denmark.
Institute of Biological Psychiatry, Mental Health Services, University of Copenhagen, Copenhagen, Denmark.
Brain and Mental Health Research Program, QIMR Berghofer, Brisbane, Queensland, Australia.
School of Psychology, The University of Queensland, Brisbane, Queensland, Australia.
Psychiatric Genetic Epidemiology Group, Research Department & Nic Waals Institute, Lovisenberg Diaconal Hospital, Oslo, Norway.
MRC Integrative Epidemiology Unit, Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.
Department of Psychiatry and Psychotherapy, University Medical Center, University of Mainz, Mainz, Germany.
Department of Neuroscience, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Department of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark.
Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Centre for Precision Psychiatry, Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Department of Psychiatry, Sørlandet Hospital, Kristiansand, Agder, Norway.
Department of Psychiatry and Psychotherapy, University Hospital Tübingen, Tübingen, Germany.
German Center for Mental Health (DZPG), partner site Tübingen, Tübingen, Germany.
Department of Psychiatry and Psychotherapy, Christian-Albrechts-Universität zu Kiel, Kiel, Germany.
Department of Psychology, Division of Clinical Psychology and Psychotherapy, Saarland University, Saarbrücken, Germany.
Institute for Psychopharmacology, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
Department of Psychiatry, College of Health Sciences, University of Alberta, Edmonton, Alberta, Canada.
Neuroscience and Mental Health Institute, University of Alberta, Edmonton, Alberta, Canada.
Hospital Universitari Institut Pere Mata (HUIPM), Institute de Recerca Biomédica Catalunya Sud (IRB-CatSud) previously IISPV-CERCA, Universitat Rovira i Virgili (URV), Reus, Spain.
Biomedical Network Research Centre on Mental Health (CIBERSAM), Instituto de Salud Carlos III, Madrid, Spain.
Neurogenomic, Translational Research Centre, Copenhagen University Hospital, Glostrup, Denmark.
Danish Headache Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Landspitali University Hospital, Reykjavik, Iceland.
Faculty of Medicine, Department of Psychiatry, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
Bradford District Care NHS Foundation Trust, Bradford, UK.
Institute of Psychiatric Phenomics and Genomics (IPPG), LMU University Hospital, LMU Munich, Munich, Germany.
Human Genomics Research Group, Department of Biomedicine, University of Basel, Basel, Switzerland.
Institute of Human Genetics, University Hospital Bonn & University of Bonn, Bonn, Germany.
Danish Cancer Institute, Copenhagen, Denmark.
Department of Haematology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
UK National Institute for Health Research (NIHR) Biomedical Research Centre, South London and Maudsley Hospital and King's College London, London, UK.
National Centre for Register-based Research, Aarhus University, Aarhus, Denmark.
Clinic for Child and Adolescent Psychiatry, German Red Cross Hospitals Westend, Berlin, Germany.
Institute for Psychology, Department of Clinical Psychology and Psychotherapy, University of Freiburg, Freiburg, Germany.
Department of Clinical Immunology, Aalborg University Hospital, Aalborg, Denmark.
Psychiatric Center Copenhagen, Copenhagen, Denmark.
Institute for Medical and Data Ethics, Heidelberg University, Faculty of Medicine, Heidelberg, Germany.
German Cancer Research Center (DKFZ), Heidelberg, Germany.
Department of Psychosomatic Medicine and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
Department of Psychiatry and Neurosciences, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt- Universität zu Berlin, Campus Benjamin Franklin, Berlin, Germany.
Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia.
Department of Clinical Psychology, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
Molecular Brain Science, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.
First Department of Psychiatry, Eginition Hospital Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Department of Research and Innovation, Division of Clinical Neuroscience, Oslo University Hospital, Oslo, Norway.
Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
HUNT Center for Molecular and Clinical Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim, Norway.
Department of Psychiatry and Psychotherapy, LMU University Hospital Munich, Ludwig Maximilian University Munich, Munich, Germany.
Institut de Biologia Evolutiva (UPF-CSIC), Department of Medicine and Life Sciences, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Spain.
deCODE genetics / AMGEN, Reykjavik, Iceland.
Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Department of Research and Innovation, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Institute of Basic Medical Sciences, Faculty of Medicine, University of Oslo, Oslo, Norway.
German Center for Mental Health (DZPG), Partner Site Munich-Augsburg, Munich-Augsburg, Germany.
South London and Maudsley NHS Foundation Trust, London, UK.
Department of Psychiatry and Psychotherapy, University Medical Center Göttingen, Göttingen, Germany.
German Center for Neurodegenerative Diseases (DZNE), Göttingen, Germany.
Leibniz Institute for Neurobiology, Magdeburg, Germany.
Department of Psychiatry and Psychotherapy, Otto von Guericke University, Magdeburg, Germany.
Department of Psychiatry and Psychotherapy, Sleep Laboratory, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
Department of Clinical Psychology and Psychotherapy, Charlotte Fresenius University, Wiesbaden, Germany.
Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Institut de Recerca Biomèdica Sant Pau (IIB-Sant Pau), Barcelona, Spain.
Department of Psychiatry, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Department of Psychiatry and Forensic Medicine & Institute of Neurosciences, Universitat Autònoma de Barcelona, Bellaterra, Spain.
Borderline Personality Disorder Clinic, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.
Finnish Institute for Health and Welfare (THL), Helsinki, Finland.
Mental health and suicide, Norwegian Institute of Public Health, Oslo, Norway.
Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Statens Serum Institut, Copenhagen, Denmark.
Department of Anaesthesiology and Operative Intensive Care, University Hospital Mannheim, Medical Faculty Mannheim/Heidelberg University, Mannheim, Germany.
IVAH, Institut für Verhaltenstherapie-Ausbildung Hamburg, gemeinnützige GmbH, Hamburg, Germany.
KG Jebsen Centre for Neurodevelopmental Disorders, University of Oslo, Oslo, Norway.
Department of Clinical Psychology, University of Amsterdam, Amsterdam, the Netherlands.
Department of Psychiatry & Psychology, Division of Computational Biology, Mayo Clinic, Rochester, MN, USA.
Department of Psychology, Faculty of Arts and Social Sciences, Simon Fraser University, Vancouver, British Columbia, Canada.
DBT Centre of Vancouver, Vancouver, British Columbia, Canada.
Department of Biomedicine, University of Basel, Basel, Switzerland.
Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.
Institute of Neuroscience and Medicine (INM-1), Research Center Juelich, Juelich, Germany.
Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
Department of Consultation Psychiatry and Psychosomatics, University Hospital Zurich, Zurich, Switzerland.
Department of General Psychiatry, University Hospital Heidelberg, Heidelberg University, Heidelberg, Germany.
Borderline Personality Disorder Clinic, General Adult Psychiatry and Health Systems Division, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
Oberberg Fachkliniken for Psychiatry, Psychosomatics and Psychotherapy, Bad Tölz, Germany.
Insitute of Human Genetics, University Hospital Bonn & University of Bonn, Bonn, Germany.
Analytic and Translational Genetics Unit, Department of Medicine, Department of Neurology and Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA.
The Stanley Center for Psychiatric Research and Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Mental Health and Psychiatry Department, Vic Hospital Consortium, Vic, Spain.
Department of Psychiatric, University Hospitals of Geneva, Geneva, Switzerland.
Psychiatric Genetics Unit, Group of Psychiatry, Mental Health and Addiction, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.
Department of Psychiatry, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Department of Psychiatry and Forensic Medicine, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain.
Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Department of Genetics, Microbiology, and Statistics, Faculty of Biology, Universitat de Barcelona, Barcelona, Spain.
Department of Psychiatry, Oberberg Fachkliniken for Psychiatry, Psychosomatics and Psychotherapy, Wendisch Rietz, Germany.
Department of Psychiatry, University of Halle, Halle, Germany.
Institute for Genomic Medicine, University of California San Diego, La Jolla, CA, USA.
Douglas Institute, Department of Psychiatry, McGill University, Montreal, Quebec, Canada.
Department of Neurology, Oslo University Hospital, Oslo, Norway.
Medical Faculty, University of Basel, Basel, Switzerland.
Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany. stephanie.witt@zi-mannheim.de.
German Center for Mental Health (DZPG), Partner Site Mannheim-Heidelberg-Ulm, Mannheim-Heidelberg-Ulm, Germany. stephanie.witt@zi-mannheim.de.
研究基于Trans-Omics for Precision Medicine项目的14,324份RNA测序样本，在包括全血（n=6,454）和肺（n=1,291）在内的六种组织和细胞类型中开展表达与剪接数量性状位点（e/sQTL）分析。研究检测到数万个次级顺式e/sQTL，表明次级顺式e/sQTL的发现仍未饱和。对UK Biobank中164种性状的全基因组关联研究信号进行精细定位，共识别出10,611个e/sQTL共定位信号，其中7,096个与次级e/sQTL共定位。结果提示，更大规模的e/sQTL分析将发现更多次级e/sQTL，从而进一步有助于GWAS解读。
为什么值得关注
编辑短评
基因表达遗传调控不是一个基因一个主信号；次级 cis-QTL 还有大量待发现，并且是解读 GWAS 风险位点的关键，很多 trans 效应本质上由 cis 中介传递。
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完整作者
Peter Orchard、Thomas W Blackwell、Linda Kachuri、Peter J Castaldi、Michael H Cho、Stephanie A Christenson、Peter Durda、Stacey Gabriel、Craig P Hersh、Scott Huntsman、Seungyong Hwang、Roby Joehanes、Mari Johnson、Xingnan Li、Honghuang Lin、Ching-Ti Liu、Yongmei Liu、Angel C Y Mak、Ani W Manichaikul、David T Paik、Aabida Saferali、Joshua D Smith、Kent D Taylor、Russell P Tracy、Jiongming Wang、Mingqiang Wang、Joshua S Weinstock、Jeffrey Weiss、Heather E Wheeler、Ying Zhou、Sebastian Zöllner、Joseph C Wu、Luisa Mestroni、Sharon Graw、Matthew R G Taylor、Victor E Ortega、W Craig Johnson、Weiniu Gan、Goncalo Abecasis、Deborah A Nickerson、Namrata Gupta、Kristin Ardlie、Prescott G Woodruff、Russell P Bowler、Deborah A Meyers、Alex Reiner、Charles Kooperberg、Elad Ziv、Ramachandran S Vasan、Martin G Larson、L Adrienne Cupples、Edwin K Silverman、Stephen S Rich、Nancy Heard-Costa、Hua Tang、Jerome I Rotter、Albert V Smith、Daniel Levy、NHLBI TOPMed Consortium Multi-Omics Working Group32、NHLBI TOPMed Consortium32§、François Aguet、Laura J Scott、Laura M Raffield、Stephen C J Parker、Namiko Abe、Laura Almasy、Seth Ament、Pramod Anugu、Paul Auer、Dimitrios Avramopoulos、Adithya Balasubramanian、R Graham Barr、Lucas Barwick、Terri Beaty、Diane Becker、Lewis Becker、Amber Beitelshees、Takis Benos、Marcos Bezerra、Joshua Bis、Jennifer Brody、Ulrich Broeckel、Jai Broome、Karen Bunting、Erin Buth、Vincent Carey、Cara Carty、Richard Casaburi、Mark Chaffin、Christy Chang、Yi-Cheng Chang、Sameer Chavan、Bo-Juen Chen、Wei-Min Chen、Seung Hoan Choi、Lee-Ming Chuang、Ren-Hua Chung、Matthew Conomos、Elaine Cornell、Carolyn Crandall、James Crapo、Jeffrey Curtis、Coleen Damcott、Sean David、Lisa de Las Fuentes、Paul de Vries、Ranjan Deka、Dawn DeMeo、Scott Devine、Huyen Dinh、Harsha Doddapaneni、Qing Duan、Ravi Duggirala、Charles Eaton、Lynette Ekunwe、Adel El Boueiz、Leslie Emery、Charles Farber、Jesse Farek、Nora Franceschini、Chris Frazar、Mao Fu、Stephanie M Fullerton、Lucinda Fulton、Shanshan Gao、Yan Gao、Margery Gass、Heather Geiger、Auyon Ghosh、Chris Gignoux、David Glahn、Stephanie Gogarten、Da-Wei Gong、Harald Goring、Daniel Grine、C Charles Gu、Yue Guan、Michael Hall、Yi Han、Daniel Harris、Ben Heavner、David Herrington、Brian Hobbs、Elliott Hong、Karin Hoth、Chao Agnes Hsiung、Jianhong Hu、Yi-Jen Hung、Haley Huston、Chii Min Hwu、Rebecca Jackson、Deepti Jain、Jill Johnsen、Rich Johnston、Kimberly Jones、Michael Kessler、Alyna Khan、Ziad Khan、Wonji Kim、John Kimoff、Greg Kinney、Holly Kramer、Christoph Lange、Ethan Lange、Cathy Laurie、Cecelia Laurie、Meryl LeBoff、Sandra Lee、Wen-Jane Lee、David Levine、Joshua Lewis、Yun Li、Xihong Lin、Simin Liu、Yu Liu、Barry Make、Alisa Manning、JoAnn Manson、Lisa Martin、Melissa Marton、Susan Mathai、Susanne May、Patrick McArdle、Merry-Lynn McDonald、Sean McFarland、Daniel McGoldrick、Caitlin McHugh、Hao Mei、James Meigs、Vipin Menon、Nancy Min、Matt Moll、Zeineen Momin、May Montasser、Josyf C Mychaleckyj、Rakhi Naik、Take Naseri、Pradeep Natarajan、Sarah C Nelson、Bonnie Neltner、Caitlin Nessner、Osuji Nkechinyere、Jeff O'Connell、Tim O'Connor、Heather Ochs-Balcom、Geoffrey Okwuonu、James Pankow、Cora Parker、Gina Peloso、Juan Manuel Peralta、Marco Perez、James Perry、Ulrike Peters、Lawrence S Phillips、Toni Pollin、Julia Powers Becker、Meher Preethi Boorgula、Bruce Psaty、Dandi Qiao、Nicholas Rafaels、Mahitha Rajendran、Laura Rasmussen-Torvik、Aakrosh Ratan、Robert Reed、Elizabeth Regan、Muagututi'a Sefuiva Reupena、Rebecca Robillard、Carolina Roselli、Ingo Ruczinski、Alexi Runnels、Pamela Russell、Kathleen Ryan、Ester Cerdeira Sabino、Shabnam Salimi、Sejal Salvi、Steven Salzberg、Kevin Sandow、Jireh Santibanez、Karen Schwander、Frank Sciurba、Frédéric Sériès、Amol Shetty、Aniket Shetty、Brian Silver、Robert Skomro、Tanja Smith、Sylvia Smoller、Beverly Snively、Adrienne M Stilp、Garrett Storm、Elizabeth Streeten、Jessica Lasky Su、Yun Ju Sung、Jody Sylvia、Adam Szpiro、Margaret Taub、Simeon Taylor、Timothy A Thornton、Machiko Threlkeld、Lesley Tinker、David Tirschwell、Hemant Tiwari、Catherine Tong、Michael Tsai、Dhananjay Vaidya、Tarik Walker、Robert Wallace、Avram Walts、Fei Fei Wang、Heming Wang、Karol Watson、Jennifer Watt、Lu-Chen Weng、Jennifer Wessel、Kayleen Williams、Carla Wilson、James Wilson、Lara Winterkorn、Quenna Wong、Baojun Wu、Huichun Xu、Lisa Yanek、Ivana Yang、Seyedeh Maryam Zekavat、Snow Xueyan Zhao、Wei Zhao、Xiaofeng Zhu
作者机构
Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.
Department of Biostatistics, School of Public Health, University of Michigan, Ann Arbor, MI, USA.
Center for Statistical Genetics, School of Public Health, University of Michigan, Ann Arbor, MI, USA.
Department of Epidemiology and Population Health, School of Medicine, Stanford University, Stanford, CA, USA.
Channing Division of Network Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Division of Pulmonary, Critical Care, Allergy, and Sleep Medicine, School of Medicine, University of California, San Francisco, San Francisco, CA, USA.
Department of Pathology and Laboratory Medicine, Larner College of Medicine, University of Vermont, Burlington, VT, USA.
Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Department of Medicine, University of California, San Francisco, San Francisco, CA, USA.
Department of Genetics, Stanford University, Stanford, CA, USA.
Population Sciences Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Framingham Heart Study, National Heart, Lung, and Blood Institute, National Institutes of Health and Boston University, Framingham, MA, USA.
Division of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle, WA, USA.
Division of Data Driven and Digital Medicine, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Division of Pulmonary, Critical Care, and Sleep Medicine, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Department of Medicine, University of Massachusetts Chan Medical School, Worcester, MA, USA.
Department of Biostatistics, School of Public Health, Boston University, Boston, MA, USA.
Division of Cardiology, Department of Medicine, School of Medicine, Duke University, Durham, NC, USA.
Department of Genome Sciences, School of Medicine, University of Virginia, Charlottesville, VA, USA.
Stanford Cardiovascular Institute, Stanford University, Stanford, CA, USA.
Northwest Genomics Center, University of Washington, Seattle, WA, USA.
The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.
Laboratory for Clinical Biochemistry Research, Larner College of Medicine, University of Vermont, Burlington, VT, USA.
Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
Program in Bioinformatics, Loyola University Chicago, Chicago, IL, USA.
Department of Biology, Loyola University Chicago, Chicago, IL, USA.
Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA.
Department of Medicine, Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Department of Medicine, Division of Pulmonary and Critical Care Medicine, Mayo Clinic, Phoenix, AZ, USA.
Collaborative Health Studies Coordinating Center, University of Washington, Seattle, WA, USA.
National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Department of Genome Sciences, University of Washington, Seattle, WA, USA.
Cardiovascular Research Institute, University of California, San Francisco; San Francisco, CA, USA.
Department of Genomic Sciences and Systems Biology, Cleveland Clinic, Cleveland, OH, USA.
Department of Medicine, Mayo Clinic, Scottsdale, AZ, USA.
Department of Epidemiology, University of Washington, Seattle, WA, USA.
Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA.
Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA, USA.
Department of Medicine, School of Medicine, Boston University, Boston, MA, USA.
Chobanian & Avedisian School of Medicine, Boston University, Boston, MA, USA.
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA.
New York Genome Center, New York, NY, USA.
Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA.
University of Maryland, Baltimore, MD, USA.
University of Mississippi, Jackson, MS, USA.
Medical College of Wisconsin, Milwaukee, WI, USA.
Johns Hopkins University, Baltimore, MD, USA.
Baylor College of Medicine Human Genome Sequencing Center, Houston, TX, USA.
Columbia University, New York, NY, USA.
The Emmes Corporation, Rockville, MD, USA.
University of Pittsburgh, Pittsburgh, PA, USA.
Fundação de Hematologia e Hemoterapia de Pernambuco - Hemope, Recife, Brazil.
University of Washington, Seattle, WA, USA.
Brigham andWomen's Hospital, Boston, MA, USA.
Washington State University, Pullman, WA, USA.
University of California, Los Angeles, Los Angeles, CA, USA.
Broad Institute, Cambridge, MA, USA.
National Taiwan University, Taipei, Taiwan (Province of China).
University of Colorado at Denver, Denver, CO, USA.
University of Virginia, Charlottesville, VA, USA.
National Health Research Institute Taiwan, Miaoli County, Taiwan (Province of China).
University of Vermont, Burlington, VT, USA.
National Jewish Health, Denver, CO, USA.
University of Michigan, Ann Arbor, MI, USA.
University of Chicago, Chicago, IL, USA.
Washington University in St. Louis, St. Louis, MO, USA.
University of Texas Health at Houston, Houston, TX, USA.
University of Cincinnati, Cincinnati, OH, USA.
University of North Carolina, Chapel Hill, NC, USA.
University of Texas Rio Grande Valley School of Medicine, Edinburg, TX, USA.
Harvard University, Cambridge, MA, USA.
Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
New York Genome Center, New York City, NY, USA.
Stanford University, Stanford, CA, USA.
Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
University of Texas Rio Grande Valley School of Medicine, San Antonio, TX, USA.
University of Maryland, Philadelphia, PA, USA.
Wake Forest Baptist Health, Winston-Salem, NC, USA.
University of Iowa, Iowa City, IA.
Tri-Service General Hospital National Defense Medical Center, Taiwan (Province of China).
Blood Works Northwest, Seattle, WA, USA.
Taichung Veterans General Hospital Taiwan, Taichung City, Taiwan (Province of China).
Oklahoma State University Medical Center, Columbus, OH, USA.
Emory University, Atlanta, GA, USA.
McGill University, Montréal, QC, Canada.
University of Colorado at Denver, Aurora, CO, USA.
Loyola University, Maywood, IL, USA.
Harvard School of Public Health, Boston, MA, USA.
Brown University, Providence, RI, USA.
Broad Institute, Harvard University, Massachusetts General Hospital, Boston, MA, USA.
George Washington University, Washington, DC, USA.
University of Alabama, Birmingham, AL, USA.
Massachusetts General Hospital, Boston, MA, USA.
National Heart, Lung, and Blood Institute, Bethesda, MD, USA.
Ministry of Health, Government of Samoa, Apia, Samoa.
University at Buffalo, Buffalo, NY, USA.
University of Minnesota, Minneapolis, MN, USA.
RTI International, Research Triangle Park, NC, USA.
Boston University, Boston, MA, USA.
Northwestern University, Chicago, IL, USA.
Lutia I Puava Ae Mapu I Fagalele, Apia, Samoa.
University of Ottawa, Ottawa, ON, Canada.
Universidade de Sao Paulo, Sao Paulo, Brazil.
University of Maryland, Seattle, WA, USA.
Lundquist Institute, Torrance, CA, USA.
Université Laval, Quebec City, Canada.
UMass Memorial Medical Center, Worcester, MA, USA.
University of Saskatchewan, Saskatoon, Canada.
Albert Einstein College of Medicine, New York, NY, USA.
Brigham and Women's Hospital, Mass General Brigham, Boston, MA, USA.
Indiana University, Indianapolis, IN, USA.
Beth Israel Deaconess Medical Center, Cambridge, MA, USA.
Henry Ford Health System, Detroit, MI, USA.
Case Western Reserve University, Cleveland, OH, USA.
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