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Transcript expression-aware annotation improves rare variant interpretation (vol 581, pg 452, 2020)

NATURE 2021年第7846期590卷 E54-E54页

作者： Cummings, Beryl B. Karczewski, Konrad J. Kosmicki, Jack A. Seaby, Eleanor G. Watts, Nicholas A. Singer-Berk, Moriel Mudge, Jonathan M. Karjalainen, Juha Satterstrom, F. Kyle O'Donnell-Luria, Anne H. Poterba, Timothy Seed, Cotton Solomonson, Matthew Alfoldi, Jessica Daly, Mark J. MacArthur, Daniel G. Program in Medical and Population Genetics 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 Program in Bioinformatics and Integrative Genomics Harvard Medical School Boston MA USA Genomic Informatics Group University Hospital Southampton Southampton UK Stanley Center for Psychiatric Research 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 European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Genome Campus Hinxton Cambridge UK Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Broad Genomics 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 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 Division of General Internal Medicine Massachusetts General Hospital Boston MA USA Institute for Molecular Medicine FIMM University of Helsinki Helsinki Finland Department of Public Health Faculty of Medicine University of Helsinki Helsinki Finland Department of Genetics Harvard Medical School Boston MA USA Data Sciences Platform Broad Institute of MIT and Harvard Cambridge MA USA Genomics Platform Broad Institute of MIT and Harvard Cambridge MA USA Wellcome Sanger Institute Hinxton Cambridgeshire UK Unidad de Investigaci

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Author Correction: Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk

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Nature genetics 2020年第3期52卷 354页

作者： Iris E Jansen Jeanne E Savage Kyoko Watanabe Julien Bryois Dylan M Williams Stacy Steinberg Julia Sealock Ida K Karlsson Sara Hägg Lavinia Athanasiu Nicola Voyle Petroula Proitsi Aree Witoelar Sven Stringer Dag Aarsland Ina S Almdahl Fred Andersen Sverre Bergh Francesco Bettella Sigurbjorn Bjornsson Anne Brækhus Geir Bråthen Christiaan de Leeuw Rahul S Desikan Srdjan Djurovic Logan Dumitrescu Tormod Fladby Timothy J Hohman Palmi V Jonsson Steven J Kiddle Arvid Rongve Ingvild Saltvedt Sigrid B Sando Geir Selbæk Maryam Shoai Nathan G Skene Jon Snaedal Eystein Stordal Ingun D Ulstein Yunpeng Wang Linda R White John Hardy Jens Hjerling-Leffler Patrick F Sullivan Wiesje M van der Flier Richard Dobson Lea K Davis Hreinn Stefansson Kari Stefansson Nancy L Pedersen Stephan Ripke Ole A Andreassen Danielle Posthuma Department of Complex Trait Genetics Center for Neurogenomics and Cognitive Research Amsterdam Neuroscience VU University Amsterdam the Netherlands. Alzheimer Center Amsterdam Department of Neurology Amsterdam Neuroscience Vrije Universiteit Amsterdam Amsterdam UMC Amsterdam the Netherlands. Department of Medical Epidemiology and Biostatistics Karolinska Institutet Stockholm Sweden. deCODE Genetics/ Amgen Reykjavik Iceland. Interdisciplinary Graduate Program Vanderbilt University Nashville TN USA. Institute of Gerontology and Aging Research Network-Jönköping (ARN-J) School of Health and Welfare Jönköping University Jönköping Sweden. NORMENT K.G. Jebsen Centre for Psychosis Research Institute of Clinical Medicine University of Oslo Oslo Norway. Division of Mental Health and Addiction Oslo University Hospital Oslo Norway. Institute of Psychiatry Psychology and Neuroscience King's College London London UK. Institute of Clinical Medicine University of Oslo Oslo Norway. Center for Age-Related Diseases Stavanger University Hospital Stavanger Norway. Department of Neurology Akershus University Hospital Lørenskog Norway. AHUS Campus University of Oslo Oslo Norway. Department of Psychiatry of Old Age Oslo University Hospital Oslo Norway. Department of Community Medicine University of Tromsø Tromsø Norway. Norwegian National Advisory Unit on Ageing and Health Vestfold Hospital Trust Tønsberg Norway. Centre for Old Age Psychiatry Research Innlandet Hospital Trust Ottestad Norway. Department of Geriatric Medicine Landspitali University Hospital Reykjavik Iceland. Geriatric Department Oslo University Hospital Oslo Norway. Department of Neuromedicine and Movement Science Norwegian University of Science and Technology Trondheim Norway. Department of Neurology St Olav's Hospital Trondheim University Hospital Trondheim Norway. Neuroradiology Section Department of Radiology and Biomedical Imaging University of California San Francisco CA USA. Department

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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159 Dermoscopy versus videocapillaroscopy in the assessment of nailfold capillaroscopy images in patients with systemic sclerosis and healthy controls

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Rheumatology 2018年第SUPPL_3期57卷

作者： Dinsdale, Graham Peytrignet, Sebastien Moore, Tonia Berks, Michael Roberts, Christopher Manning, Joanne Allen, John Anderson, Marina Cutolo, Maurizio Hesselstrand, Roger Howell, Kevin Pizzorni, Carmen Smith, Vanessa Sulli, Alberto Wildt, Marie Taylor, Christopher Murray, Andrea Herrick, Ariane Centre for Musculoskeletal Research University of Manchester Salford Royal Hospital NHS Foundation Trust MAHSC Manchester UNITED KINGDOM Centre for Imaging Sciences Division of Informatics Imaging & Data Sciences University of Manchester Manchester UNITED KINGDOM Centre for Biostatistics Division of Population Health Health Services Research & Primary Care University of Manchester Manchester UNITED KINGDOM Microvascular Diagnostics Northern Medical Physics and Clinical Engineering Freeman Hospital Newcastle-upon-Tyne UNITED KINGDOM Institute of Ageing and Chronic Disease University of Liverpool Liverpool UNITED KINGDOM Research Laboratory and Academic Division of Clinical Rheumatology Department of Internal Medicine University of Genova Genova ITALY Department of Clinical Sciences Section of Rheumatology Lund University Lund SWEDEN Institute of Immunity and Transplantation University College London Royal Free Campus London UNITED KINGDOM Research Laboratory and Academic Division of Clinical Rheumatology Dept. Internal Medicine University of Genova Genova ITALY Department of Rheumatology Ghent University Hospital Faculty of Internal Medicine Ghent University Ghent BELGIUM Research Laboratory and Academic Division of Clinical Rheumatology Dept. Internal Medicine University of Genova Manchester ITALY NIHR Manchester Musculoskeletal Biomedical Research Centre Central Manchester NHS Foundation Trust Manchester Academic Health Science Centre Manchester UNITED KINGDOM

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Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

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Nature communications 2023年第1期14卷 716页

作者： Itziar de Rojas Sonia Moreno-Grau Niccolo Tesi Benjamin Grenier-Boley Victor Andrade Iris E Jansen Nancy L Pedersen Najada Stringa Anna Zettergren Isabel Hernández Laura Montrreal Carmen Antúnez Anna Antonell Rick M Tankard Joshua C Bis Rebecca Sims Céline Bellenguez Inés Quintela Antonio González-Perez Miguel Calero Emilio Franco-Macías Juan Macías Rafael Blesa Laura Cervera-Carles Manuel Menéndez-González Ana Frank-García Jose Luís Royo Fermin Moreno Raquel Huerto Vilas Miquel Baquero Mónica Diez-Fairen Carmen Lage Sebastián García-Madrona Pablo García-González Emilio Alarcón-Martín Sergi Valero Oscar Sotolongo-Grau Abbe Ullgren Adam C Naj Afina W Lemstra Alba Benaque Alba Pérez-Cordón Alberto Benussi Alberto Rábano Alessandro Padovani Alessio Squassina Alexandre de Mendonça Alfonso Arias Pastor Almar A L Kok Alun Meggy Ana Belén Pastor Ana Espinosa Anaïs Corma-Gómez Angel Martín Montes Ángela Sanabria Anita L DeStefano Anja Schneider Annakaisa Haapasalo Anne Kinhult Ståhlbom Anne Tybjærg-Hansen Annette M Hartmann Annika Spottke Arturo Corbatón-Anchuelo Arvid Rongve Barbara Borroni Beatrice Arosio Benedetta Nacmias Børge G Nordestgaard Brian W Kunkle Camille Charbonnier Carla Abdelnour Carlo Masullo Carmen Martínez Rodríguez Carmen Muñoz-Fernandez Carole Dufouil Caroline Graff Catarina B Ferreira Caterina Chillotti Chandra A Reynolds Chiara Fenoglio Christine Van Broeckhoven Christopher Clark Claudia Pisanu Claudia L Satizabal Clive Holmes Dolores Buiza-Rueda Dag Aarsland Dan Rujescu Daniel Alcolea Daniela Galimberti David Wallon Davide Seripa Edna Grünblatt Efthimios Dardiotis Emrah Düzel Elio Scarpini Elisa Conti Elisa Rubino Ellen Gelpi Eloy Rodriguez-Rodriguez Emmanuelle Duron Eric Boerwinkle Evelyn Ferri Fabrizio Tagliavini Fahri Küçükali Florence Pasquier Florentino Sanchez-Garcia Francesca Mangialasche Frank Jessen Gaël Nicolas Geir Selbæk Gemma Ortega Geneviève Chêne Georgios Hadjigeorgiou Giacomina Rossi Gianfranco Spalletta Giorgio Giaccone Giulia Grande Giuliano Binetti Goran Papenberg Harald Hampel Research Center and Memory clinic Fundació ACE Institut Català de Neurociències Aplicades Universitat Internacional de Catalunya Barcelona Spain. CIBERNED Network Center for Biomedical Research in Neurodegenerative Diseases National Institute of Health Carlos III Madrid Spain. Alzheimer Center Amsterdam Department of Neurology Amsterdam Neuroscience Vrije Universiteit Amsterdam Amsterdam UMC Amsterdam The Netherlands. Section Genomics of Neurodegenerative Diseases and Aging Department of Clinical Genetics Vrije Universiteit Amsterdam Amsterdam UMC Amsterdam The Netherlands. Delft Bioinformatics Lab Delft Univeristy of Technology Delft The Netherlands. Univ. Lille Inserm Institut Pasteur de Lille CHU Lille U1167-Labex DISTALZ-RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases Lille France. Division of Neurogenetics and Molecular Psychiatry Department of Psychiatry and Psychotherapy University of Cologne Medical Faculty Cologne Germany. Department of Neurodegenerative diseases and Geriatric Psychiatry University Clinic Bonn Bonn Germany. Department of Complex Trait Genetics Center for Neurogenomics and Cognitive Research Amsterdam Neuroscience VU University Amsterdam The Netherlands. Department of Medical Epidemiology and Biostatistics Karolinska Institutet Stockholm Sweden. Amsterdam UMC-Vrije Universiteit Amsterdam Department of Epidemiology and Data Science Amsterdam Public Health Research Institute Amsterdam The Netherlands. Neuropsychiatric Epidemiology Unit Department of Psychiatry and Neurochemistry Institute of Neuroscience and Physiology Sahlgrenska Academy Centre for Ageing and Health (AgeCap) University of Gothenburg Gothenburg Sweden. Unidad de Demencias Hospital Clínico Universitario Virgen de la Arrixaca Murcia Spain. Alzheimer's disease and other cognitive disorders unit. Service of Neurology Hospital Clínic of Barcelona. Institut d'Investigacions Biomèdiques August Pi i Sunyer University of Barcelona Barcelona Spain

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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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A structural variation reference for medical and population genetics (vol 581, pg 444, 2020)

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NATURE 2021年第7846期590卷 E55-E55页

作者： Collins, Ryan L. Brand, Harrison Karczewski, Konrad J. Zhao, Xuefang Alfoldi, Jessica Francioli, Laurent C. Khera, Amit V. Lowther, Chelsea Gauthier, Laura D. Wang, Harold Watts, Nicholas A. Solomonson, Matthew O'Donnell-Luria, Anne Baumann, Alexander Munshi, Ruchi Walker, Mark Whelan, Christopher W. Huang, Yongqing Brookings, Ted Sharpe, Ted Stone, Matthew R. Valkanas, Elise Fu, Jack Tiao, Grace Laricchia, Kristen M. Ruano-Rubio, Valentin Stevens, Christine Gupta, Namrata Cusick, Caroline Margolin, Lauren Taylor, Kent D. Lin, Henry J. Rich, Stephen S. Post, Wendy S. Chen, Yii-Der Ida Rotter, Jerome I. Nusbaum, Chad Philippakis, Anthony Lander, Eric Gabriel, Stacey Neale, Benjamin M. Kathiresan, Sekar Daly, Mark J. Banks, Eric MacArthur, Daniel G. Talkowski, Michael E. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Division of Medical Sciences Harvard Medical School Boston MA USA Department of Neurology Massachusetts General Hospital and Harvard Medical School Boston MA USA Analytical and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Department of Medicine Harvard Medical School Boston MA USA Data Science Platform Broad Institute of MIT and Harvard Cambridge MA USA Broad Genomics Broad Institute of MIT and Harvard Cambridge MA USA European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Genome Campus Hinxton Cambridge UK Stanley Center for Psychiatric Research 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 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 Cardiac Arrhythmia Service Cardiovascular Research Center Massachusetts General Hospital Boston MA USA Estonian Genome Center Institute of Genomics University of Tartu Tartu Estonia Diabetes Unit Massachusetts General Hospital Boston MA USA Program in Metabolism Broad Institute of MIT and Harvard Cambridge MA USA Division of Cardiology Massachusetts General Hospital Boston MA USA Cardiovascular Disease Initiative Broad Institute of MIT and Harvard Cambridge MA USA Division of General Internal Medicine Massachusetts General Hospital Boston MA USA Institute for Molecular Medicine Finland (FIMM) HiLIFE University of Helsinki Helsinki Finland Department of Public Health Faculty of Medicine University

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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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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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Allogeneic Hematopoietic Cell Transplantation (HCT) Vs. Non-HCT Consolidation Therapies in Acute Myeloid Leukemia (AML) Patients 60-75 Years of Age in First Complete Remission (CR1): An Alliance (A151509), SWOG, ECOG-ACRIN and CIBMTR Study

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Blood 2018年 132卷 2170-2170页

作者： Celalettin Ustun Jennifer Le-Rademacher Hai-Lin Wang Megan Othus Zhuoxin Sun Brittny Major Mei-Jie Zhang Elizabeth Storrick Jacqueline M Lafky Selina Chow Krzysztof Mrózek Eyal C. Attar Clara D. Bloomfield Larry D Cripe Richard A. Larson Guido Marcucci Gail J. Roboz Geoffrey L. Uy Richard M. Stone Aminah Jatoi Andrew S Artz Blood and Marrow Transplant Program University of Minnesota Minneapolis MN Dept of Biomedical Statistics and Informatics Mayo Clinic Rochester MN CIBMTR (Center for International Blood and Marrow Transplant Research) Department of Medicine Medical College of Wisconsin Milwaukee WI Public Health Sciences Division Fred Hutchinson Cancer Research Center Seattle Harvard T.H. Chan School of Public Health Boston Department of Health Sciences Research Mayo Clinic Rochester Alliance Statistics and Data Center Mayo Clinic Rochester MN Mayo Clinic Rochester University of Chicago Comprehensive Cancer Center Chicago The Ohio State University Comprehensive Cancer Center Columbus OH Massachusetts General Hospital Boston Agios Pharmaceuticals Inc. Cambridge MA Comprehensive Cancer Center The Ohio State University Columbus OH Indiana University Simon Cancer Center Indianapolis Department of Medicine and Comprehensive Cancer Center University of Chicago Chicago IL Department of Hematological Malignancies Translational Science Gehr Family Center for Leukemia Research Hematologic Malignancies and Stem Cell Transplantation Institute Beckman Research Institute City of Hope Medical Center Duarte CA Weill Cornell Medicine and The Weill Medical College of Cornell University New York NY Washington University School of Medicine Saint Louis MO Dana-Farber Cancer Institute Boston MA Department of Medicine Section of Hematology/Oncology University of Chicago Chicago IL

Introduction: The preferred post-remission therapy for older patients (pts) with AML remains uncertain. We compared outcomes for older AML pts in CR1 receiving HCT reported to the CIBMTR to older AML pts achieving CR1...

Introduction: The preferred post-remission therapy for older patients (pts) with AML remains uncertain. We compared outcomes for older AML pts in CR1 receiving HCT reported to the CIBMTR to older AML pts achieving CR1 on National Clinical Trials Network induction and non-HCT consolidation therapy (CT) trials. Methods: This study focused on pts 60-75 years of age treated between 2004 to 2013. CT pts (n=211) underwent induction and consolidation on Alliance for Clinical Trials in Oncology, ECOG-ACRIN or SWOG clinical trials for initial therapy for newly diagnosed AML; the CIBMTR provided data for HCT pts (n=431). CT patients received at least one cycle of CT on study and were excluded if HCT occurred at any time. Time to event started at CR1 and pts entered at CT or HCT, respectively, using left-truncation to account for differential entry times. Results: For the CT cohort, first consolidation included standard therapy (e.g., cytarabine or a hypomethylating agent) and additional study drug (e.g., bortezomib, dasatinib, sorafenib, and Zosuquidar, gemtuzumab) or tipifarnib alone. Among HCT pts, the donor was a HLA-matched sibling or unrelated donor (URD) in 66% and the others were partially HLA-matched/mismatched URD (10%) or cord blood (24%). HCT pts were younger and more frequently had high-risk AML (high WBC, secondary AML and unfavorable cytogenetics) (Table). The median time from CR1 to HCT and CT was 3.2 and 0.5 months, respectively. Allogeneic HCT showed worse overall survival (OS) (HR=1.52, p=0.02) prior to 9 months and better OS thereafter (HR= 0.53, p <0.0001) relative to CT (figure 1A). Treatment-related mortality (TRM) was worse after HCT in the first 9 months (HR=2.8, CI: 1.5 -5.2, p =.0009), while relapse was less frequent beyond 9 months after treatment (HR = 0.42, CI: 0.29 to 0.61, p <.0001). Despite higher early TRM, HCT recipients went on to manifest superior OS [5 year OS: HCT 29% (24-34%), CT 13.8% (9 -22%)] (Figure 1A). The benefit of HCT for surviv

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A second update on mapping the human genetic architecture of COVID-19

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Nature 2023年第7977期621卷 E7-E26页

作者： Masahiro Kanai Christine Stevens Benjamin M. Neale Mark Daly Andrea Ganna Amy Trankiem Mary K. Balaconis Samuli Ripatti Lindo Nkambul Mark J. Daly Sam Bryant Matthew Solomonson Shea J. Andrews Mattia Cordioli Juha Karjalainen Juha Mehtonen Matti Pirinen Andrea Corbetta Bradley Jermy Kati Donner Katja Kivinen Aarno Palotie Mari Kaunisto Kumar Veerapen Konrad J. Karczewski Alicia R. Martin Elizabeth G. Atkinson Kristin Tsuo Nikolas Baya Rahul Gupta Raymond K. Walters Duncan S. Palmer Gopal Sarma Nathan Cheng Wenhan Lu Claire Churchhouse Jacqueline I. Goldstein Daniel King Wei Zhou Cotton Seed Hilary Finucane F. Kyle Satterstrom Gita A. Pathak Akiko Iwasaki Karolina Chwialkowska Karolina Chwiałkowska Brooke N. Wolford Hajar Fauzan Ahmad Shea Andrews Kathrin Aprile von Hohenstaufen Puoti Palwende R. Boua Guillaume Butler-Laporte Celia M. T. Greenwood Bartha M. Knoppers Mark Lathrop Carmen L. Cadilla Francesca Colombo Nicole Dueker Chloe Kirk Atanu Kumar Dutta Yasser M. El-Sherbiny Jehan J. El-Jawhari Doaa Shahin Ahmed Elzeiny Tamer A. Mansour Madonna M. Eltoukhy Attia A. S. Mohamed Sahar Esmaeeli Annika Faucon Israel Fernández Cadenas Israel Fernandez-Cadenas Laia Llucià-Carol Natalia Cullell Elena Muiño Jara Cárcel-Márquez Margherita Francescatto Laurent Francioli Lindokuhle Nkambule Jatin Arora Soumya Raychaudhuri Caroline Cusick Lude Franke Macarena Fuentes Macarena Fuentes-Guajardo David Gómez Cabrero Emi N. Harry Philip Jansen József L. Szentpéteri Réka Várnai Elżbieta Kaja Athanasios Kousathanas Dorote Pasko Mark J. Caulfield Alex Stuckey Christopher A. Odhams Susan Walker Daniel Rhodes Richard H. Scott Loukas Moutsianas Afshan Siddiq Peter Goddard Sally Donovan Tala Zainy Fiona Maleady-Crowe Linda Todd Shahla Salehi Greg Elgar Georgia Chan Prabhu Arumugam Christine Patch Augusto Rendon Tom A. Fowler Jose E. Krieger Sanjay K. Patel Audrey Lemaçon Sophie Limou Pietro Lió Eirini Marouli Charles Hinds Minttu M. Marttila Carolina Medina-Gómez Isabelle Migeotte Soumyajit Mondal Andrés Moreno-Estrada Leire Moya Tomok Broad Institute of MIT and Harvard Cambridge MA USA Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Department of Biomedical Informatics Harvard Medical School Boston MA USA Program in Bioinformatics and Integrative Genomics Harvard Medical School Boston MA USA Institute for Molecular Medicine Finland (FIMM) University of Helsinki Helsinki Finland Institute for Molecular Medicine Finland University of Helsinki Helsinki Finland Institute for Molecular Medicine Finland (FIMM) HiLIFE University of Helsinki Helsinki Finland Public Health Faculty of Medicine University of Helsinki Helsinki Finland Analytic & Translational Genetics Unit Massachusetts General Hospital Boston MA USA Stanley Center for Psychiatric Research & Program in Medical and Population Genetics Cambridge UK Institute for Molecular Medicine Finland (FIMM) Univerisity of Helsinki Helsinki Finland University of California San Francisco San Francisco CA USA Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA Program in Biological and Biomedical Sciences Harvard Medical School Boston MA USA Department of Psychiatry School of Medicine Yale University New Haven CT USA Veteran Affairs Connecticut Healthcare System West Haven CT USA Yale University New Haven CT USA Centre for Bioinformatics and Data Analysis Medical University of Bialystok Bialystok Poland Department of Computational Medicine and Bioinformatics University of Michigan Ann Arbor MI USA Faculty of Industrial Sciences and Technology Universiti Malaysia Pahang Pahang Malaysia Icahn School of Medicine at Mount Sinai New York NY USA Genolier Innovation Network and Hub Swiss Medical Network Genolier Healthcare Campus Genolier Switzerland Immediate Independent Multidisciplinary Med & Biotech Research Association Milan Italy Clinical Research Unit of Nanor

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