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Author Correction: Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk

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Nature genetics 2022年第8期54卷 1259页

作者： Adam W Turner Shengen Shawn Hu Jose Verdezoto Mosquera Wei Feng Ma Chani J Hodonsky Doris Wong Gaëlle Auguste Yipei Song Katia Sol-Church Emily Farber Soumya Kundu Anshul Kundaje Nicolas G Lopez Lijiang Ma Saikat Kumar B Ghosh Suna Onengut-Gumuscu Euan A Ashley Thomas Quertermous Aloke V Finn Nicholas J Leeper Jason C Kovacic Johan L M Björkegren Chongzhi Zang Clint L Miller Center for Public Health Genomics University of Virginia Charlottesville VA USA. Department of Biochemistry and Molecular Genetics University of Virginia Charlottesville VA USA. Medical Scientist Training Program University of Virginia Charlottesville VA USA. Department of Pathology University of Virginia Charlottesville VA USA. Robert M. Berne Cardiovascular Research Center University of Virginia Charlottesville VA USA. Genome Analysis & Technology Core University of Virginia Charlottesville VA USA. Genome Sciences Laboratory University of Virginia Charlottesville VA USA. Department of Genetics Stanford University School of Medicine Stanford CA USA. Department of Computer Science Stanford University Stanford CA USA. Division of Vascular Surgery Department of Surgery Stanford University Stanford CA USA. Department of Genetics and Genomic Sciences Icahn Institute for Genomics and Multiscale Biology Icahn School of Medicine at Mount Sinai New York NY USA. CVPath Institute Gaithersburg MD USA. Department of Public Health Sciences University of Virginia Charlottesville VA USA. Division of Cardiovascular Medicine Department of Medicine Stanford University Stanford CA USA. Cardiovascular Research Institute Icahn School of Medicine at Mount Sinai New York NY USA. Victor Chang Cardiac Research Institute Darlinghurst New South Wales Australia. St. Vincent's Clinical School University of New South Wales Sydney New South Wales Australia. Integrated Cardio Metabolic Centre Department of Medicine Karolinska Institutet Huddinge Sweden. Center for Public Health Genomics University of Virginia Charlottesville VA USA. zang@virginia.edu. Department of Biochemistry and Molecular Genetics University of Virginia Charlottesville VA USA. zang@virginia.edu. Department of Public Health Sciences University of Virginia Charlottesville VA USA. zang@virginia.edu. Center for Public Health Genomics University of Virginia Charlottesville VA USA. clintm@virg

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LifeTime and improving European healthcare through cell-based interceptive medicine (vol 587, pg 377, 2020)

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NATURE 2021年第7852期592卷 E8-E8页

作者： Rajewsky, Nikolaus Almouzni, Genevieve Gorski, Stanislaw A. Aerts, Stein Amit, Ido Bertero, Michela G. Bock, Christoph Bredenoord, Annelien L. Cavalli, Giacomo Chiocca, Susanna Clevers, Hans De Strooper, Bart Eggert, Angelika Ellenberg, Jan Fernandez, Xose M. Figlerowicz, Marek Gasser, Susan M. Hubner, Norbert Kjems, Jorgen Knoblich, Jurgen A. Krabbe, Grietje Lichter, Peter Linnarsson, Sten Marine, Jean-Christophe Marioni, John C. Marti-Renom, Marc A. Netea, Mihai G. Nickel, Dorthe Nollmann, Marcelo Novak, Halina R. Parkinson, Helen Piccolo, Stefano Pinheiro, Ines Pombo, Ana Popp, Christian Reik, Wolf Roman-Roman, Sergio Rosenstiel, Philip Schultze, Joachim L. Stegle, Oliver Tanay, Amos Testa, Giuseppe Thanos, Dimitris Theis, Fabian J. Torres-Padilla, Maria-Elena Valencia, Alfonso Vallot, Celine van Oudenaarden, Alexander Vidal, Marie Voet, Thierry Berlin Institute for Medical Systems Biology Max Delbrück Center for Molecular Medicine in the Helmholtz Association Berlin Germany Charité-Universitätsmedizin Berlin Germany Berlin Institute of Health (BIH) Berlin Germany German Center for Cardiovascular Research (DZHK) Partner Site Berlin Berlin Germany Institute for Biology Humboldt University of Berlin Berlin Germany Cardiovascular and Metabolic Sciences Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC) Berlin Germany Department of Pediatric Oncology/Hematology Charité-Universitätsmedizin Berlin Berlin Germany Institut Curie CNRS PSL Research University Sorbonne Université Nuclear Dynamics Unit Equipe Labellisée Ligue contre le cancer Paris France VIB Center for Brain and Disease Research Leuven Belgium Department of Human Genetics KU Leuven Leuven Belgium Department of Neurosciences KU Leuven Leuven Belgium UK Dementia Research Institute at UCL University College London London UK Wellcome Sanger Institute Wellcome Genome Campus Cambridge UK Department of Immunology Weizmann Institute of Science Rehovot Israel Centre for Genomic Regulation (CRG) Barcelona Institute of Science and Technology Barcelona Spain CNAG-CRG Centre for Genomic Regulation Barcelona Institute of Science and Technology Barcelona Spain Universitat Pompeu Fabra Barcelona Spain ICREA Barcelona Spain CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences Vienna Austria Department of Laboratory Medicine Medical University of Vienna Vienna Austria Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Vienna Austria Department of Medical Humanities Julius Center for Health Sciences and Primary Care University Medical Center Utrecht Utrecht The Netherlands Institute of Human Genetics UMR 9002 CNRS and University of Montpellier Montpellier France Department of Experimental Oncology IEO European Institute of Oncology IRCCS Milan Italy Department of Oncology and Hemato

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Publisher Correction: IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis

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Scientific reports 2018年第1期8卷 10367页

作者： Daichi Shigemizu Fuyuki Miya Shintaro Akiyama Shujiro Okuda Keith A Boroevich Akihiro Fujimoto Hidewaki Nakagawa Kouichi Ozaki Shumpei Niida Yonehiro Kanemura Nobuhiko Okamoto Shinji Saitoh Mitsuhiro Kato Mami Yamasaki Tatsuo Matsunaga Hideki Mutai Kenjiro Kosaki Tatsuhiko Tsunoda Department for Medical Genome Sciences Medical Genome Center National Center for Geriatrics and Gerontology Aichi Japan. daichi@ncgg.go.jp. Department of Medical Science Mathematics Medical Research Institute Tokyo Medical and Dental University (TMDU) Tokyo Japan. daichi@ncgg.go.jp. RIKEN Center for Integrative Medical Sciences Yokohama Japan. daichi@ncgg.go.jp. Medical Sciences Innovation Hub Program Cluster for Science and Technology Hub RIKEN Yokohama Japan. daichi@ncgg.go.jp. CREST JST Japan. daichi@ncgg.go.jp. Department of Medical Science Mathematics Medical Research Institute Tokyo Medical and Dental University (TMDU) Tokyo Japan. RIKEN Center for Integrative Medical Sciences Yokohama Japan. Department for Medical Genome Sciences Medical Genome Center National Center for Geriatrics and Gerontology Aichi Japan. Niigata University Graduate School of Medical and Dental Sciences Niigata Japan. Department of Drug Discovery Medicine Graduate School of Medicine Kyoto University Kyoto Japan. Division of Regenerative Medicine Institute for Clinical Research Osaka National Hospital National Hospital Organization Osaka Japan. Department of Neurosurgery Osaka National Hospital National Hospital Organization Osaka Japan. Department of Medical Genetics Osaka Medical Center and Research Institute for Maternal and Child Health Osaka Japan. Department of Pediatrics and Neonatology Nagoya City University Graduate School of Medical Sciences Nagoya Japan. Department of Pediatrics Showa University School of Medicine Tokyo Japan. Department of Pediatric Neurosurgery Takatsuki General Hospital Osaka Japan. Division of Hearing and Balance Research National Institute of Sensory Organs National Hospital Organization Tokyo Medical Center Tokyo Japan. Center for Medical Genetics Keio University School of Medicine Tokyo Japan. Department of Medical Science Mathematics Medical Research Institute Tokyo Medical and Dental University (TMDU) Tokyo Japan. tsunoda.mesm@mri.tmd.a

A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper.

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Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children

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四川生理科学杂志 2022年第12期44卷 2223-2223页

作者： Danyel Lee St. Giles Laboratory of Human Genetics of Infectious Diseases Rockefeller Branch The Rockefeller University New York NY USA. Laboratory of Human Genetics of Infectious Diseases Necker Branch INSERM U1163 Paris France. Paris City University Imagine Institute Paris France. Laboratory of Virology and Infectious Disease The Rockefeller University New York NY USA. Department of Cancer Biology Lerner Research Institute Cleveland Clinic Cleveland OH USA. Human Evolutionary Genetics Unit Institut Pasteur Paris City University CNRS UMR 2000 Paris France. Doctoral College Sorbonne University Paris France. Laboratory of Immunology Lyon Sud Hospital Lyon France. Pediatric Intensive Care Department Hospital Sant Joan de Déu Barcelona Spain. Kids Corona Platform Barcelona Spain. Center for Biomedical Network Research on Epidemiology and Public Health (CIBERESP) Instituto de Salud Carlos III Madrid Spain. Department of Surgery and Surgical Specializations Faculty of Medicine and Health Sciences University of Barcelona Barcelona Spain. Respiratory and Immunological Dysfunction in Pediatric Critically Ill Patients Institute of Recerca Sant Joan de Déu Barcelona Spain. Bursa City Hospital Bursa Turkey. Ankara City Hospital Yildirim Beyazit University Ankara Turkey. Immunology and Rheumatology Division Department of Pediatrics University of Montreal CHU Sainte-Justine Montreal QC Canada. Center for Translational Research Institut Pasteur Paris City University Paris France. Department of Biochemistry and Center for RNA Science and Therapeutics Case Western Reserve University Cleveland OH USA. Department of Surgery Weill Cornell Medical College New York NY USA. Department of Pediatrics School of Medicine Emory University Atlanta GA USA. International Center of Infectiology Research (CIRI) University of Lyon INSERM U1111 Claude Bernard University Lyon 1 CNRS UMR5308 ENS of Lyon Lyon France. Departments of Neurosurgery and Genetics and Yale Center for G

Multisystem inflammatory syndrome in children(MIS-C)is a rare and severe condition that follows benign *** report autosomal recessive deficiencies of OAS1,OAS2,or RNASEL in five unrelated children with *** cytosolic d... 详细信息

关键词： inflammatory children multisystem

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Genetics in Medicine Open

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Genetics in Medicine Open 2024年 2卷 101873-101873页

作者： van der Sluijs, P.J. Gösgens, M. Dingemans, A.J.M. Striano, P. Riva, A. Mignot, C. Faudet, A. Vasileiou, G. Walther, M. Schrier Vergano, S.A. Alders, M. Alkuraya, F.S. Alorainy, I. Alsaif, H.S. Anderlid, B. Bache, I. van Beek, I. Blanluet, M. van Bon, B.W. Brunet, T. Brunner, H. Carriero, M.L. Charles, P. Chatron, N. Coccia, E. Dubourg, C. Earl, R.K. Eichler, E.E. Faivre, L. Foulds, N. Graziano, C. Guerrot, A.M. Hashem, M.O. Heide, S. Heron, D. Hickey, S.E. Hopman, S.M.J. Kattentidt-Mouravieva, A. Kerkhof, J. Klein Wassink-Ruiter, J.S. Kurtz-Nelson, E.C. Kušíková, K. Kvarnung, M. Lecoquierre, F. Leszinski, G.S. Loberti, L. Magoulas, P.L. Mari, F. Maystadt, I. Merla, G. Milunsky, J.M. Moortgat, S. Nicolas, G. Leary, M.O.’ Odent, S. Ozmore, J.R. Parbhoo, K. Pfundt, R. Piccione, M. Pinto, A.M. Popp, B. Putoux, A. Rehm, H.L. Reis, A. Renieri, A. Rosenfeld, J.A. Rossi, M. Salzano, E. Saugier-Veber, P. Seri, M. Severi, G. Sonmez, F.M. Strobl-Wildemann, G. Stuurman, K.E. Uctepe, E. Van Esch, H. Vitetta, G. de Vries, B.B.A. Wahl, D. Wang, T. Zacher, P. Heitink, K.R. Ropers, F.G. Steenbeek, D. Rybak, T. Santen, G.W.E. Department of Clinical Genetics Leiden University Medical Center Leiden Netherlands Department of Human Genetics Donders Institute for Brain Cognition and Behaviour Radboud University Medical Center Nijmegen Netherlands Pediatric Neurology and Muscular Diseases Unit IRCCS Istituto Giannina Gaslini Genova Italy Department of Neurosciences Rehabilitation Ophthalmology Genetics Maternal and Child Health University of Genova Genova Italy IRCCS Istituto Giannina Gaslini Genova Italy Service de génétique médicale APHP Pitié-Salpêtrière Paris France Département de Génétique Assistance publique - Hôpitaux de Paris Sorbonne Université Hôpital Pitié-Salpêtrière et Trousseau Paris France Institute of Human Genetics Universitätsklinikum Erlangen Friedrich-Alexander-Universität Erlangen-Nürnberg Erlangen 91054 Germany Centre for Rare Diseases Erlangen (ZSEER) Erlangen Germany Children's Hospital of The King's Daughters Norfolk VA United States Department of Pediatrics Eastern Virginia Medical School Norfolk VA United States Section Clinical Genetics Department of Human Genetics Amsterdam University Medical Centers Amsterdam Netherlands Department of Translational Genomics Center for Genomic Medicine King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia Department of Anatomy and Cell Biology College of Medicine Alfaisal University Riyadh Saudi Arabia Department of Radiology and Diagnostic Imaging King Khalid University Hospital and College of Medicine King Saud University Riyadh Saudi Arabia Centre of Excellence for Biomedicine Joint Centers of Excellence Program King Abdulaziz City for Science and Technology Riyadh Saudi Arabia Clinical Genetics Karolinska Universitet Hospital and Department of Molecular Medicine and Surgery Karolinska Institutet Stockholm Sweden Department of Clinical Genetics Copenhagen University Hospital Rigshospitalet Copenhagen Denmark Service de Génétique Oncologique Institut Curie Paris France Department of Human

Purpose: ARID1B is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with ARID1B-related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families. Methods: Data on patients aged 18+ years with ARID1B-related disorder were collected through an online questionnaire completed by clinicians and parents. Results: Eighty-seven adult patients with ARID1B were included. Cognitive functioning ranged from borderline to severe intellectual disability. Patients identified through the genetic workup of their child were either mosaic or had a variant in exon 1. New clinical features identified in this population are loss of skill (16/64, 25%) and recurrent patella luxation (12/45, 32%). Self-sustainability data showed that 88% (45/51) could eat independently, and 16% (7/45) could travel alone by public transport. Facial photo analysis showed that patients’ photographs taken at different ages clustered consistently, separate from matched controls. Conclusion: The ARID1B spectrum is broad, and as patients age, there is a significant shift in the medical aspects requiring attention. To address the changing medical needs with increasing age, we have formulated recommendations to promote timely intervention in an attempt to mitigate disease progression. © 2024 The Authors

关键词： Adult ARID1B Coffin–Siris syndrome Developmental delay Intellectual disability

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P052 A novel algorithm for KIR copy number imputation by KIBAG and consolidation of population specific KIR references in HKimpNet (HLA & KIR imputation network)

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Human Immunology 2019年 80卷 93-93页

作者： Seik-Soon Khor Xiuwen Zheng Akiko Ishitani Fumihiro Azuma Chul-Woo Pyo Yosuke Omae Toshio Yabe Daniel Geraghty Mary Carrington Katsushi Tokunaga HLA & KIR Imputation Network (HKimpnet) The University of Tokyo Tokyo Japan Toyama Genome Medical Science Project National Center for Global Health and Medicine Tokyo Japan University of Washington Seattle WA United States Nara Medical University Nara Japan Japanese Red Cross Kanto-Koshinetsu Block Blood Center Tokyo Japan Clinical Research Division Fred Hutchinson Cancer Research Center Seattle WA United States Scisco Genetics Inc Seattle WA United States Basic Science Program Frederick National Laboratory for Cancer Research Frederick MD United States Ragon Institute of the Massachusetts General Hospital Massachusetts Institute of Technology and Harvard University Boston MA United States

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The mutational constraint spectrum quantified from variation in 141,456 humans (vol 581, pg 434, 2020)

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NATURE 2021年第7874期597卷 E3-E4页

作者： Gudmundsson, Sanna Karczewski, Konrad J. Francioli, Laurent C. Tiao, Grace Cummings, Beryl B. Alfoldi, Jessica Wang, Qingbo Collins, Ryan L. Laricchia, Kristen M. Ganna, Andrea Birnbaum, Daniel P. Gauthier, Laura D. Brand, Harrison Solomonson, Matthew Watts, Nicholas A. Rhodes, Daniel Singer-Berk, Moriel England, Eleina M. Seaby, Eleanor G. Kosmicki, Jack A. Walters, Raymond K. Tashman, Katherine Farjoun, Yossi Banks, Eric Poterba, Timothy Wang, Arcturus Seed, Cotton Whiffin, Nicola Chong, Jessica X. Samocha, Kaitlin E. Pierce-Hoffman, Emma Zappala, Zachary O'Donnell-Luria, Anne H. Minikel, Eric Vallabh Weisburd, Ben Lek, Monkol Ware, James S. Vittal, Christopher Armean, Irina M. Bergelson, Louis Cibulskis, Kristian Connolly, Kristen M. Covarrubias, Miguel Donnelly, Stacey Ferriera, Steven Gabriel, Stacey Gentry, Jeff Gupta, Namrata Jeandet, Thibault Kaplan, Diane Llanwarne, Christopher Munshi, Ruchi Novod, Sam Petrillo, Nikelle Roazen, David Ruano-Rubio, Valentin Saltzman, Andrea Schleicher, Molly Soto, Jose Tibbetts, Kathleen Tolonen, Charlotte Wade, Gordon Talkowski, Michael E. Neale, Benjamin M. Daly, Mark J. MacArthur, Daniel G. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Division of Genetics and Genomics Boston Children’s Hospital Boston MA USA Program in Biological and Biomedical Sciences Harvard Medical School Boston MA USA Program in Bioinformatics and Integrative Genomics Harvard Medical School Boston MA USA Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Institute for Molecular Medicine Finland Helsinki Finland Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA National Heart & Lung Institute and MRC London Institute of Medical Sciences Imperial College London London UK Cardiovascular Research Centre Royal Brompton & Harefield Hospitals NHS Trust London UK Vertex Pharmaceuticals Inc Boston MA USA Department of Pediatrics Harvard Medical School Boston MA USA Broad Genomics Broad Institute of MIT and Harvard Cambridge MA USA Department of Neurology Harvard Medical School Boston MA USA Cardiac Arrhythmia Service and Cardiovascular Research Center Massachusetts General Hospital Boston MA USA Estonian Genome Center Institute of Genomics University of Tartu Tartu Estonia Data Sciences Platform Broad Institute of MIT and Harvard Cambridge MA USA Diabetes Unit Massachusetts General Hospital Boston MA USA Program in Metabolism Broad Institute of MIT and Harvard Cambridge MA USA Department of Medicine Harvard Medical School Boston MA USA Division of General Internal Medicine Massachusetts General Hospital Boston MA USA Department of Public Health Faculty of Medicine University of Helsinki Helsinki Finland Cardiovascular Disease Initiative and Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Genomics Diabetes and Endocrinology Lund University Lund Sweden Folkhälsan Institute of Genetics Folkhälsan Research C

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The mutational constraint spectrum quantified from variation in 141,456 humans (vol 581, pg 434, 2020)

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NATURE 2021年第7846期590卷 E53-E53页

作者： Karczewski, Konrad J. Francioli, Laurent C. Tiao, Grace Cummings, Beryl B. Alfoldi, Jessica Wang, Qingbo Collins, Ryan L. Laricchia, Kristen M. Ganna, Andrea Birnbaum, Daniel P. Gauthier, Laura D. Brand, Harrison Solomonson, Matthew Watts, Nicholas A. Rhodes, Daniel Singer-Berk, Moriel England, Eleina M. Seaby, Eleanor G. Kosmicki, Jack A. Walters, Raymond K. Tashman, Katherine Farjoun, Yossi Banks, Eric Poterba, Timothy Wang, Arcturus Seed, Cotton Whiffin, Nicola Chong, Jessica X. Samocha, Kaitlin E. Pierce-Hoffman, Emma Zappala, Zachary O'Donnell-Luria, Anne H. Minikel, Eric Vallabh Weisburd, Ben Lek, Monkol Ware, James S. Vittal, Christopher Armean, Irina M. Bergelson, Louis Cibulskis, Kristian Connolly, Kristen M. Covarrubias, Miguel Donnelly, Stacey Ferriera, Steven Gabriel, Stacey Gentry, Jeff Gupta, Namrata Jeandet, Thibault Kaplan, Diane Llanwarne, Christopher Munshi, Ruchi Novod, Sam Petrillo, Nikelle Roazen, David Ruano-Rubio, Valentin Saltzman, Andrea Schleicher, Molly Soto, Jose Tibbetts, Kathleen Tolonen, Charlotte Wade, Gordon Talkowski, Michael E. Aggregation, genome Neale, Benjamin M. Daly, Mark J. MacArthur, Daniel G. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Program in Biological and Biomedical Sciences Harvard Medical School Boston MA USA Program in Bioinformatics and Integrative Genomics Harvard Medical School Boston MA USA Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Institute for Molecular Medicine Finland Helsinki Finland Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA National Heart & Lung Institute and MRC London Institute of Medical Sciences Imperial College London London UK Cardiovascular Research Centre Royal Brompton & Harefield Hospitals NHS Trust London UK Vertex Pharmaceuticals Inc Boston MA USA Division of Genetics and Genomics Boston Children’s Hospital Boston MA USA Department of Pediatrics Harvard Medical School Boston MA USA Broad Genomics Broad Institute of MIT and Harvard Cambridge MA USA Department of Neurology Harvard Medical School Boston MA USA Cardiac Arrhythmia Service and Cardiovascular Research Center Massachusetts General Hospital Boston MA USA Estonian Genome Center Institute of Genomics University of Tartu Tartu Estonia Data Sciences Platform Broad Institute of MIT and Harvard Cambridge MA USA Diabetes Unit Massachusetts General Hospital Boston MA USA Program in Metabolism Broad Institute of MIT and Harvard Cambridge MA USA Department of Medicine Harvard Medical School Boston MA USA Division of General Internal Medicine Massachusetts General Hospital Boston MA USA Department of Public Health Faculty of Medicine University of Helsinki Helsinki Finland Cardiovascular Disease Initiative and Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Genomics Diabetes and Endocrinology Lund University Lund Sweden Folkhälsan Institute of Genetics Folkhälsan Research C

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Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants

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science (New York, N.Y.) 2025年第6734期387卷 eadp4753页

作者： Liu, Hongbo Abedini, Amin Ha, Eunji Ma, Ziyuan Sheng, Xin Dumoulin, Bernhard Qiu, Chengxiang Aranyi, Tamas Li, Shen Dittrich, Nicole Chen, Hua-Chang Tao, Ran Tarng, Der-Cherng Hsieh, Feng-Jen Chen, Shih-Ann Yang, Shun-Fa Lee, Mei-Yueh Kwok, Pui-Yan Wu, Jer-Yuarn Chen, Chien-Hsiun Khan, Atlas Limdi, Nita A. Wei, Wei-Qi Walunas, Theresa L. Karlson, Elizabeth W. Kenny, Eimear E. Luo, Yuan Kottyan, Leah Connolly, John J. Jarvik, Gail P. Weng, Chunhua Shang, Ning Cole, Joanne B. Mercader, Josep M. Mandla, Ravi Majarian, Timothy D. Florez, Jose C. Haas, Mary E. Lotta, Luca A. Drivas, Theodore G. Vy, Ha My T Nadkarni, Girish N. Wiley, Laura K. Wilson, Melissa P. Gignoux, Christopher R. Rasheed, Humaira Thomas, Laurent F. Åsvold, Bjørn Olav Brumpton, Ben M. Hallan, Stein I. Hveem, Kristian Zheng, Jie Hellwege, Jacklyn N. Zawistowski, Matthew Zöllner, Sebastian Franceschini, Nora Hu, Hailong Zhou, Jianfu Kiryluk, Krzysztof Ritchie, Marylyn D. Palmer, Matthew Edwards, Todd L. Voight, Benjamin F. Hung, Adriana M. Susztak, Katalin Department of Medicine Renal Electrolyte and Hypertension Division University of Pennsylvania Philadelphia PA United States Institute of Diabetes Obesity and Metabolism University of Pennsylvania Philadelphia PA United States Department of Genetics University of Pennsylvania Philadelphia PA United States Penn-CHOP Kidney Innovation Center University of Pennsylvania Philadelphia PA United States Liangzhu Laboratory Zhejiang University 1369 West Wenyi Road Hangzhou Zhejiang China Department of Nephrology Children' Hospital Zhejiang University School of Medicine National Clinical Research Center for Child Health Hangzhou Zhejiang China Institute of Molecular Life Sciences HUN-REN Research Center for Natural Sciences Budapest Hungary Department of Molecular Biology Semmelweis University Budapest Hungary Department of Medicine Federal University of São Paulo São Paulo Brazil Department of Biostatistics Vanderbilt University Medical Center Nashville TN United States Vanderbilt Genetics Institute Vanderbilt University Medical Center Nashville TN United States Institute of Clinical Medicine School of Medicine National Yang Ming Chiao Tung University ROC Taipei Taiwan Division of Nephrology Department of Medicine Taipei Veterans General Hospital ROC Taipei Taiwan Institute of Biomedical Sciences Academia Sinica ROC Taipei Taiwan Cardiovascular Center Taichung Veterans General Hospital Taichung Taiwan ROC National Chung Hsing University Taichung Taiwan ROC Heart Rhythm Center Division of Cardiology Department of Medicine Taipei Veterans General Hospital ROC Taipei Taiwan Department of Internal Medicine College of Medicine National Yang Ming Chiao Tung University ROC Taipei Taiwan Institute of Medicine Chung Shan Medical University Taichung Taiwan ROC Department of Medical Research Chung Shan Medical University Hospital Taichung Taiwan ROC Division of Endocrinology and Metabolism Department of Internal Medicine Kaohsiung Medical Universit

Kidney dysfunction is a major cause of mortality, but its genetic architecture remains elusive. In this study, we conducted a multiancestry genome-wide association study in 2.2 million individuals and identified 1026 (97 previously unknown) independent loci. Ancestry-specific analysis indicated an attenuation of newly identified signals on common variants in European ancestry populations and the power of population diversity for further discoveries. We defined genotype effects on allele-specific gene expression and regulatory circuitries in more than 700 human kidneys and 237,000 cells. We found 1363 coding variants disrupting 782 genes, with 601 genes also targeted by regulatory variants and convergence in 161 genes. Integrating 32 types of genetic information, we present the "Kidney Disease Genetic Scorecard" for prioritizing potentially causal genes, cell types, and druggable targets for kidney disease.

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Evaluating drug targets through human loss-of-function genetic variation (vol 581, pg 459, 2020)

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NATURE 2021年第7846期590卷 E56-E56页

作者： Minikel, Eric Vallabh Karczewski, Konrad J. Martin, Hilary C. Cummings, Beryl B. Whiffin, Nicola Rhodes, Daniel Alfoldi, Jessica Trembath, Richard C. van Heel, David A. Daly, Mark J. Schreiber, Stuart L. MacArthur, Daniel G. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA Chemical Biology and Therapeutics Science Program Broad Institute of MIT and Harvard Cambridge MA USA Analytical and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Program in Biological and Biomedical Sciences Harvard Medical School Boston MA USA Henry and Allison McCance Center for Brain Health Massachusetts General Hospital Boston MA USA Department of Neurology Massachusetts General Hospital Boston MA USA Prion Alliance Cambridge MA USA National Heart and Lung Institute and MRC London Institute of Medical Sciences Imperial College London London UK National Heart & Lung Institute and MRC London Institute of Medical Sciences Imperial College London London UK Cardiovascular Research Centre Royal Brompton & Harefield Hospitals NHS Trust London UK European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Genome Campus Hinxton Cambridge UK Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Program in Bioinformatics and Integrative Genomics Harvard Medical School Boston MA USA Broad Genomics Broad Institute of MIT and Harvard Cambridge MA USA Division of Genetics and Genomics Boston Children’s Hospital Boston MA USA Department of Pediatrics Harvard Medical School Boston MA USA Cardiac Arrhythmia Service and Cardiovascular Research Center Massachusetts General Hospital Boston MA USA Estonian Genome Center Institute of Genomics University of Tartu Tartu Estonia Department of Medicine Harvard Medical School Boston MA USA Cardiac Arrhythmia Service Massachusetts General Hospital Boston MA USA Centre for Population Genomics Garvan Institute of Medical Research and UNSW Sydney Sydney Australia Centre for Population Genomics Murdoch Children’s Research Institute Melbourne Australia Divi

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