Resultados globales: 203 registros encontrados en 0.03 segundos.
Artículos, Encontrados 187 registros
Documentos de investigación, Encontrados 16 registros
Artículos Encontrados 187 registros  1 - 10siguientefinal  ir al registro:
1.
35 p, 18.8 MB A saturated map of common genetic variants associated with human height / Yengo, Loic (The University of Queensland) ; Vedantam, Sailaja (Program in Medical and Population Genetics. Broad Institute of MIT and Harvard) ; Marouli, Eirini (William Harvey Research Institute. Barts and the London School of Medicine and Dentistry. Queen Mary University of London) ; Sidorenko, Julia (Institute for Molecular Bioscience. The University of Queensland) ; Bartell, Eric (Harvard Medical School) ; Sakaue, Saori (Divisions of Genetics and Rheumatology. Brigham and Women's Hospital and Department of Medicine. Harvard Medical School) ; Graff, Marielisa (Gillings School of Global Public Health. University of North Carolina at Chapel Hill) ; Eliasen, Anders U. (Section for Bioinformatics. Department of Health Technology. Technical University of Denmark) ; Jiang, Yunxuan (23andMe) ; Raghavan, Sridharan (Division of Biomedical Informatics and Personalized Medicine) ; Miao, Jenkai (Broad Institute of MIT and Harvard) ; Arias, Joshua D. (National Cancer Institute) ; Graham, Sarah E. (University of Michigan) ; Mukamel, Ronen E. (Harvard Medical School) ; Spracklen, Cassandra N. (University of Massachusetts) ; Yin, Xianyong (University of Michigan School of Public Health) ; Chen, Shyh-Huei (Wake Forest School of Medicine) ; Ferreira, Teresa (University of Oxford) ; Highland, Heather H. (University of North Carolina at Chapel Hill) ; Ji, Yingjie (University of Exeter) ; Karaderi, Tugce (University of Oxford) ; Lin, Kuang (Nuffield University of Oxford) ; Lüll, Kreete (University of Tartu) ; Malden, Deborah (University of Oxford) ; Medina-Gomez, Carolina (University Medical Center Rotterdam) ; Machado, Moara (National Cancer Institute) ; Moore, Amy (RTI International) ; Rüeger, Sina (Swiss Institute of Bioinformatics) ; Sim, Xueling (National University of Singapore) ; Vrieze, Scott (University of Minnesota) ; Ahluwalia, Tarunveer Singh (University of Copenhagen) ; Akiyama, Masato (Kyushu University) ; Allison, Matthew A. (University of California (San Diego, Estats Units)) ; Álvarez, Marcus (David Geffen School of Medicine) ; Andersen, Mette korre (University of Copenhagen) ; Ani, Alireza (Isfahan University of Medical Sciences) ; Appadurai, Vivek (Copenhagen University Hospital) ; Arbeeva, Liubov (University of North Carolina) ; Bhaskar, Seema (CSIR-Centre for Cellular and Molecular Biology) ; Bielak, Lawrence F. (University of Michigan School of Public Health) ; Bollepalli, Sailalitha (University of Helsinki) ; Bonnycastle, Lori L. (National Institutes of Health) ; Bork-Jensen, Jette (University of Copenhagen) ; Bradfield, J.P. (Quantinuum Research) ; Bradford, Y. (University of Pennsylvania) ; Braund, P.S. (Glenfield Hospital) ; Brody, J.A. (University of Washington) ; Burgdorf, K.S. (Copenhagen University) ; Cade, B.E. (Brigham and Women's Hospital) ; Cai, H. (Vanderbilt University Medical Center) ; Cai, Q. (Vanderbilt University Medical Center) ; Campbell, Archie (University of Edinburgh) ; Cañadas-Garre, M. (Queen's University of Belfast) ; Catamo, E. (Burlo Garofolo) ; Chai, J.F. (National University of Singapore and National University Health System) ; Chai, X. (National University of Singapore and National University Health System) ; Chang, L.C. (Academia Sinica) ; Chang, Y.C. (National Taiwan University Hospital) ; Chen, C.H. (Academia Sinica) ; Chesi, A. (Children's Hospital of Philadelphia) ; Choi, S.H. (Broad Institute of MIT and Harvard) ; Chung, R.H. (National Health Research Institutes) ; Cocca, M. (Burlo Garofolo) ; Concas, M.P. (Burlo Garofolo) ; Couture, C. (Université Laval) ; Cuellar-Partida, Gabriel (University of Queensland Diamantina Institute) ; Danning, R. (Brigham and Women's Hospital) ; Daw, E.W. (Washington University School of Medicine) ; Degenhard, F. (Christian-Albrechts University of Kiel) ; Delgado, G.E. (Heidelberg University) ; Delitala, A. (Università degli Studi di Sassari) ; Demirkan, A. (University of Surrey) ; Deng, X. (Boston University School of Public Health) ; Devineni, P. (VA Boston Healthcare System) ; Dietl, A. (University Hospital Regensburg) ; Dimitriou, M. (Harokopio University of Athens) ; Dimitrov, L. (Medical Center Boulevard) ; Dorajoo, R. (Duke-NUS Medical School) ; Ekici, A.B. (Friedrich-Alexander-Universität Erlangen-Nürnberg) ; Engmann, J.E. (University College London) ; Fairhurst-Hunter, Z. (University of Oxford) ; Farmaki, A.E. (Harokopio University of Athens) ; Faul, J.D. (University of Michigan) ; Fernandez-Lopez, J.C. (National Institute of Genomic Medicine) ; Forer, L. (Medical University of Innsbruck) ; Francescatto, M. (University of Trieste) ; Freitag-Wolf, S. (Kiel University) ; Fuchsberger, C. (Affiliated Institute of the University of Lübeck) ; Galesloot, T.E. (Radboud University Medical Center) ; Gao, Y. (University of Mississippi) ; Gao, Z. (Helmholtz Zentrum München Research Center for Environmental Health) ; Geller, F. (Statens Serum Institut) ; Giannakopoulou, O. (Queen Mary University of London) ; Giulianini, F. (Brigham and Women's Hospital) ; Gjesing, A.P. (University of Copenhagen) ; Goel, A. (University of Oxford) ; Gordon, S.D. (QIMR Berghofer Medical Research Institute) ; Gorski, M. (University of Regensburg) ; Grove, J. (Aarhus University) ; Guo, X. (Harbor-UCLA Medical Center) ; Gustafsson, S. (Uppsala University) ; Haessler, J. (Fred Hutchinson Cancer Research Center) ; Hansen, T.F. (Copenhagen University Hospital) ; Havulinna, A.S. (Finnish Institute for Health and Welfare) ; Haworth, S.J. (University of Bristol) ; He, J. (Vanderbilt University Medical Center) ; Heard-Costa, N. (Framingham Heart Study) ; Hebbar, P. (Dasman Diabetes Institute) ; Hindy, G. (Lund University) ; Ho, Y.L.A. (Veterans Affairs Boston Healthcare System) ; Hofer, E. (Medical University of Graz) ; Holliday, E. (University of Newcastle) ; Horn, K. (University of Leipzig) ; Hornsby, W.E. (University of Michigan) ; Hottenga, J.J. (Vrije Universiteit Amsterdam) ; Huang, H. (Chan School of Public Health) ; Huang, J. (Peking University) ; Huerta-Chagoya, A. (Instituto Nacional de Ciencias Médicas y Nutrición) ; Huffman, J.E. (Veterans Affairs Boston Healthcare System) ; Hung, Y.J. (Tri-Service General Hospital Songshan Branch) ; Huo, S. (Chinese Academy of Sciences) ; Hwang, M.Y. (National Institute of Health) ; Iha, H. (Otsuka Pharmaceutical Co.) ; Ikeda, D.D. (Otsuka Pharmaceutical Co.) ; Isono, M. (National Center for Global Health and Medicine) ; Jackson, A.U. (University of Michigan School of Public Health) ; Jäger, S. (German Center for Diabetes Research (DZD)) ; Jansen, I.E. (Vrije Universiteit Medical Center) ; Johansson, I. (Umeå University) ; Jonas, J.B. (Capital Medical University) ; Jonsson, A. (University of Copenhagen) ; Jørgensen, T. (University of Copenhagen) ; Kalafati, I.P. (Harokopio University of Athens) ; Kanai, M. (Osaka University Graduate School of Medicine) ; Kanoni, S. (Queen Mary University of London) ; Kårhus, L.L. (Copenhagen University Hospital) ; Kasturiratne, A. (University of Kelaniya) ; Katsuya, T. (Osaka University Graduate School of Medicine) ; Kawaguchi, T. (Kyoto University Graduate School of Medicine) ; Kember, R.L. (University of Pennsylvania) ; Kentistou, K.A. (University of Edinburgh) ; Kim, H.N. (Sungkyunkwan University) ; Kim, Y.J. (National Institute of Health) ; Kleber, M.E. (SYNLAB MVZ Humangenetik Mannheim) ; Knol, M.J. (University Medical Center Rotterdam) ; Kurbasic, A. (Lund University) ; Lauzon, M. (Harbor-UCLA Medical Center) ; Le, P. (University of Toronto at Mississauga) ; Lea, R. (Queensland University of Technology) ; Lee, J.Y. (Soonchunhyang Mirai Medical Center) ; Leonard, H.L. (Data Tecnica International) ; Li, S.A. (Leidos Biomedical Research) ; Li, X. (St Cloud State University) ; Liang, J. (Case Western Reserve University) ; Lin, H. (University of Massachusetts Chan Medical School) ; Lin, S.Y. (Taichung Veterans General Hospital) ; Liu, J. (Genome Institute of Singapore) ; Liu, X. (Statens Serum Institut) ; Lo, K.S. (Montreal Heart Institute) ; Long, J. (Vanderbilt University Medical Center) ; Lores-Motta, L. (Radboud University Nijmegen Medical Center) ; Luan, J. (University of Cambridge School of Clinical Medicine) ; Lyssenko, V. (Lund University Diabetes Centre) ; Lyytikäinen, L.P. (Tampere University Hospital) ; Mahajan, A. (RIKEN Center for Integrative Medical Sciences) ; Mamakou, V. (National and Kapodistrian University of Athens) ; Mangino, M. (Guy's and St Thomas' Foundation Trust) ; Manichaikul, A. (University of Virginia School of Medicine) ; Marten, J. (University of Edinburgh) ; Mattheisen, M. (University Hospital) ; Mavarani, L. (University Hospital Essen) ; McDaid, A.F. (Swiss Institute of Bioinformatics) ; Meidtner, K. (German Center for Diabetes Research) ; Melendez, T.L. (University of Michigan) ; Mercader, J.M. (Massachusetts General Hospital) ; Milaneschi, Y. (Amsterdam UMC and Vrije Universiteit) ; Miller, J.E. (University of Pennsylvania) ; Millwood, I.Y. (University of Oxford) ; Mishra, P.P. (Tampere University) ; Mitchell, R.E. (University of Bristol) ; Møllehave, L.T. (Copenhagen University Hospital) ; Morgan, A. (Burlo Garofolo) ; Mucha, S. (University of Lübeck) ; Munz, M. (University of Lübeck) ; Nakatochi, M. (Nagoya University Graduate School of Medicine) ; Nelson, C.P. (Glenfield Hospital) ; Nethander, M. (University of Gothenburg) ; Nho, C.W. (Gangneung Institute of Natural Products) ; Nielsen, A.A. (Lillebaelt Hospital) ; Nolte, I.M. (University Medical Center Groningen) ; Nongmaithem, S.S. (Wellcome Sanger Institute) ; Noordam, R. (Leiden University Medical Center) ; Ntalla, I. (Queen Mary University of London) ; Nutile, T. (Institute of Genetics and Biophysics A. Buzzati-Traverso) ; Pandit, A. (University of Michigan School of Public Health) ; Christofidou, P. (King's College London) ; Pärna, K. (University Medical Center Groningen) ; Pauper, M. (Radboud University Nijmegen Medical Center) ; Petersen, E.R.B. (Hospital of Southern Jutland) ; Petersen, L.V. (University of Aarhus) ; Pitkänen, N. (University of Turku) ; Polašek, O. (Algebra University College) ; Poveda, A. (Lund University) ; Preuss, M.H. (Icahn School of Medicine at Mount Sinai) ; Pyarajan, S. (VA Boston Healthcare System) ; Raffield, L.M. (University of North Carolina at Chapel Hill) ; Rakugi, H. (Osaka University Graduate School of Medicine) ; Ramirez, J. (Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina) ; Rasheed, A. (Center for Non-Communicable Diseases) ; Raven, D. (University of Groningen) ; Rayner, N.W. (University of Oxford. Churchill Hospital) ; Riveros, C. (The University of Newcastle) ; Rohde, R. (University of North Carolina at Chapel Hill) ; Ruggiero, D. (IRCCS Neuromed) ; Ruotsalainen, S.E. (University of Helsinki) ; Ryan, K.A. (University of Maryland School of Medicine) ; Sabater-Lleal, Maria (Institut d'Investigació Biomèdica Sant Pau) ; Saxena, R. (Massachusetts General Hospital) ; Scholz, M. (University of Leipzig) ; Sendamarai, A. (VA Boston Healthcare System) ; Shen, B. (National Institutes of Health) ; Shi, J. (23andMe) ; Shin, J.H. (Hallym University) ; Sidore, C. (Consiglio Nazionale delle Ricerche (CNR)) ; Sitlani, Collen M (University of Washington) ; Slieker, R.C. (Amsterdam Cardiovascular Sciences) ; Smit, R.A.J. (Leiden University Medical Center) ; Smith, A.V. (Icelandic Heart Association) ; Smith, J.A. (University of Michigan) ; Smyth, L.J. (Queen's University of Belfast) ; Southam, L. (Wellcome Trust Sanger Institute (Regne Unit)) ; Steinthorsdottir, V. (deCODE Genetics/Amgen) ; Sun, L. (University of Chinese Academy of Sciences) ; Takeuchi, F. (National Center for Global Health and Medicine) ; Tallapragada, D.S.P. (University of Bergen) ; Taylor, K.D. (Harbor-UCLA Medical Center) ; Tayo, B.O. (Loyola University Chicago) ; Tcheandjieu, C. (Stanford University School of Medicine) ; Terzikhan, N. (University Medical Center Rotterdam) ; Tesolin, P. (University of Trieste) ; Teumer, A. (DZHK (German Centre for Cardiovascular Research)) ; Theusch, E. (University of California) ; Thompson, D.J. (University of Cambridge) ; Thorleifsson, G. (deCODE Genetics/Amgen) ; Timmers, P.R.H.J. (Western General Hospital) ; Trompet, S. (Leiden University Medical Center) ; Turman, C. (Chan School of Public Health) ; Vaccargiu, S. (Consiglio Nazionale delle Ricerche) ; van der Laan, S.W. (Utrecht University) ; van der Most, P.J. (University Medical Center Groningen) ; van Klinken, J.B. (University of Amsterdam) ; van Setten, J. (Utrecht University) ; Verma, S.S. (University of Pennsylvania) ; Verweij, N. (University Medical Center Groningen) ; Veturi, Y. (University of Pennsylvania) ; Wang, C.A. (The University of Newcastle) ; Wang, C. (Huazhong University of Science and Technology) ; Wang, L. (Washington University School of Medicine) ; Wang, Z. (Icahn School of Medicine at Mount Sinai) ; Warren, H.R. (Queen Mary University of London) ; Bin Wei, W. (Capital Medical University) ; Wickremasinghe, A.R. (University of Kelaniya) ; Wielscher, M. (Medical University of Vienna) ; Wiggins, K.L. (University of Washington) ; Winsvold, B.S. (Oslo University Hospital) ; Wong, A. (University College London) ; Wu, Y. (The University of Queensland) ; Wuttke, M. (University of Freiburg) ; Xia, R. (University of Texas Health Science Center at Houston) ; Xie, T. (University Medical Center Groningen) ; Yamamoto, K. (Kurume University School of Medicine) ; Yang, J. (Westlake Laboratory of Life Sciences and Biomedicine) ; Yao, J. (Harbor-UCLA Medical Center) ; Young, H. (University of Minnesota) ; Yousri, N.A. (Alexandria University) ; Yu, L. (Rush University Medical Center) ; Zeng, L. (Technical University Munich) ; Zhang, W. (Imperial College London) ; Zhang, X. (University of Pennsylvania) ; Zhao, J.H. (University of Cambridge) ; Zhao, W. (University of Michigan School of Public Health) ; Zhou, W. (Broad Institute of MIT and Harvard) ; Zimmermann, M.E. (University of Regensburg) ; Zoledziewska, M. (Consiglio Nazionale delle Ricerche) ; Adair, L.S. (University of North Carolina at Chapel Hill) ; Adams, H.H.H. (Universidad Adolfo Ibáñez) ; Aguilar-Salinas, C.A. (Escuela de Medicina y Ciencias de la Salud) ; Al-Mulla, F. (Dasman Diabetes Institute) ; Arnett, D.K. (University of Kentucky) ; Asselbergs, F.W. (University College London) ; Åsvold, B.O. (Trondheim University Hospital) ; Attia, J. (University of Newcastle) ; Banas, B. (University Hospital Regensburg) ; Bandinelli, S. (Azienda Toscana Centro) ; Bennett, D.A. (Rush University Medical Center) ; Bergler, T. (University Hospital Regensburg) ; Bharadwaj, D. (Jawaharlal Nehru University) ; Biino, G. (National Research Council of Italy) ; Bisgaard, H. (University of Copenhagen) ; Boerwinkle, E. (University of Texas Health Science Center at Houston) ; Böger, C.A. (KfH Kidney Center Traunstein) ; Bønnelykke, K. (University of Copenhagen) ; Boomsma, D.I. (Vrije Universiteit Amsterdam) ; Børglum, A.D. (Aarhus University) ; Borja, J.B. (University of San Carlos) ; Bouchard, C. (Pennington Biomedical Research Center) ; Bowden, D.W. (Medical Center Boulevard) ; Brandslund, I. (University of Southern Denmark) ; Brumpton, B. (Trondheim University Hospital) ; Buring, J.E. (Brigham and Women's Hospital) ; Caulfield, M.J. (Queen Mary University of London) ; Chambers, J.C. (Imperial College London) ; Chandak, G.R. (JSS (Deemed to be) University) ; Chanock, Stephen J. (National Cancer Institute) ; Chaturvedi, N. (University College London) ; Chen, Y.D.I. (Harbor-UCLA Medical Center) ; Chen, Z. (University of Oxford) ; Cheng, C.Y. (Duke-NUS Medical School) ; Christophersen, I.E. (Vestre Viken Hospital Trust) ; Ciullo, M. (IRCCS Neuromed) ; Cole, J.W. (Baltimore Veterans Affairs Medical Center) ; Collins, F.S. (National Institutes of Health) ; Cooper, R.S. (Loyola University Chicago) ; Cruz, M. (Instituto Mexicano del Seguro Social) ; Cucca, F. (Università degli Studi di Sassari) ; Cupples, L.A. (Framingham Heart Study) ; Cutler, M.J. (Intermountain Medical Center) ; Damrauer, S.M. (Crescenz VA Medical Center) ; Dantoft, T.M. (Copenhagen University Hospital - Bispebjerg and Frederiksberg) ; de Borst, G.J. (University of Utrecht) ; de Groot, L.C.P.G.M. (Department of Human Nutrition. Wageningen University) ; De Jager, P.L. (Columbia University Medical Center) ; de Kleijn, D.P.V. (University of Utrecht) ; Janaka de Silva, H. (University of Kelaniya) ; Dedoussis, G.V. (Harokopio University of Athens) ; den Hollander, A.I. (Radboud University Nijmegen Medical Center) ; Du, S. (University of North Carolina at Chapel Hill) ; Easton, D.F. (Department of Oncology. University of Cambridge) ; Elders, P.J.M. (Amsterdam UMC) ; Eliassen, A.H. (Chan School of Public Health) ; Ellinor, P.T. (Massachusetts General Hospital) ; Elmståhl, S. (Lund University) ; Erdmann, J. (University Heart Center Lübeck) ; Evans, M.K. (National Institutes of Health) ; Fatkin, D. (UNSW Sydney) ; Feenstra, B. (Statens Serum Institut) ; Feitosa, M.F. (Washington University School of Medicine) ; Ferrucci, L. (National Institutes of Health) ; Ford, I. (University of Glasgow) ; Fornage, M. (University of Texas Health Science Center at Houston) ; Franke, A. (Christian-Albrechts University of Kiel) ; Franks, P.W. (Umeå University) ; Freedman, B.I. (Medical Center Boulevard) ; Gasparini, P. (University of Trieste) ; Gieger, C. (German Center for Diabetes Research) ; Girotto, G. (University of Trieste) ; Goddard, M.E. (Precincts and Regions) ; Golightly, Y.M. (University of North Carolina at Chapel Hill) ; Gonzalez-Villalpando, C. (Centro de Estudios en Diabetes) ; Gordon-Larsen, P. (University of North Carolina at Chapel Hill) ; Grallert, H. (German Center for Diabetes Research) ; Grant, S.F.A. (Children's Hospital of Philadelphia) ; Grarup, N. (University of Copenhagen) ; Griffiths, L. (Queensland University of Technology) ; Gudnason, V. (University of Iceland) ; Haiman, C. (Keck School of Medicine of USC) ; Hakonarson, H. (Children's Hospital of Philadelphia) ; Hansen, T. (University of Copenhagen) ; Hartman, C.A. (University Medical Center Groningen) ; Hattersley, A.T. (University of Exeter Medical School) ; Hayward, C. (University of Edinburgh) ; Heckbert, S.R. (University of Washington) ; Heng, C.K. (National University Health System) ; Hengstenberg, C. (Medical University of Vienna) ; Hewitt, A.W. (University of Western Australia) ; Hishigaki, H. (Otsuka Pharmaceutical Co.) ; Hoyng, C.B. (Radboud University Nijmegen Medical Center) ; Huang, P.L. (Massachusetts General Hospital) ; Huang, W. (Shanghai Industrial Technology Institute) ; Hunt, S.C. (University of Utah) ; Hveem, K. (Norwegian University of Science and Technology) ; Hyppönen, E. (South Australian Health and Medical Research Institute) ; Iacono, W.G. (University of Minnesota) ; Ichihara, S. (Jichi Medical University School of Medicine) ; Ikram, M.A. (University Medical Center Rotterdam) ; Isasi, C.R. (Albert Einstein College of Medicine) ; Jackson, R.D. (Ohio State University) ; Jarvelin, M.R. (Brunel University London) ; Jin, Z.B. (Wenzhou Medical University) ; Jöckel, K.H. (University Hospital Essen) ; Joshi, P.K. (University of Edinburgh) ; Jousilahti, P. (Finnish Institute for Health and Welfare) ; Jukema, J.W. (Netherlands Heart Institute) ; Kähönen, M. (Tampere University) ; Kamatani, Y. (The University of Tokyo) ; Kang, K.D. (The Catholic University of Korea Incheon St. Mary's Hospital) ; Kaprio, J. (University of Helsinki) ; Kardia, S.L.R. (University of Michigan School of Public Health) ; Karpe, F. (Churchill Hospital) ; Kato, N. (National Center for Global Health and Medicine) ; Kee, F. (Queen's University of Belfast) ; Kessler, T. (German Centre for Cardiovascular Research) ; Khera, A.V. (Massachusetts General Hospital) ; Khor, C.C. (Genome Institute of Singapore) ; Kiemeney, L.A.L.M. (Radboud University Medical Center) ; Kim, B.J. (National Institute of Health) ; Kim, E.K. (Saevit Eye Hospital) ; Kim, H.L. (Ewha Womans University) ; Kirchhof, P. (Atrial Fibrillation NETwork) ; Kivimaki, M. (University College London) ; Koh, W.P. (National University of Singapore) ; Koistinen, H.A. (Minerva Foundation Institute for Medical Research) ; Kolovou, G.D. (Metropolitan Hospital) ; Kooner, J.S. (Imperial College London) ; Kooperberg, C. (Fred Hutchinson Cancer Research Center) ; Köttgen, A. (University of Freiburg) ; Kovacs, P. (University of Leipzig Medical Center) ; Kraaijeveld, A. (Utrecht University) ; Kraft, P. (Chan School of Public Health) ; Krauss, R.M. (University of California) ; Kumari, M. (University of Essex) ; Kutalik, Z. (Swiss Institute of Bioinformatics) ; Laakso, M. (Kuopio University Hospital) ; Lange, L.A. (University of Colorado at Denver) ; Langenberg, C. (Charité - Universitätsmedizin Berlin) ; Launer, L.J. (National Institutes of Health) ; Le Marchand, L. (University of Hawaii Cancer Center) ; Lee, H. (Ewha Womans University School of Medicine) ; Lee, N.R. (University of San Carlos) ; Lehtimäki, T. (Tampere University) ; Li, H. (University of Chinese Academy of Sciences) ; Li, L. (Peking University Center for Public Health) ; Lieb, W. (Kiel University) ; Lin, X. (University of Chinese Academy of Sciences) ; Lind, L. (Uppsala University) ; Linneberg, A. (University of Copenhagen) ; Liu, C.T. (Boston University School of Public Health) ; Liu, J. (Genome Institute of Singapore) ; Loeffler, M. (University of Leipzig) ; London, B. (University of Iowa Hospitals and Clinics) ; Lubitz, S.A. (Massachusetts General Hospital) ; Lye, S.J. (Sinai Health System) ; Mackey, D.A. (University of Western Australia) ; Mägi, R. (University of Tartu) ; Magnusson, P.K.E. (Karolinska Institutet) ; Marcus, G.M. (University of California) ; Vidal, P.M. (University of Lausanne) ; Martin, N.G. (QIMR Berghofer Medical Research Institute) ; März, W. (Medical University of Graz) ; Matsuda, F. (Kyoto University Graduate School of Medicine) ; McGarrah, R.W. (Duke University School of Medicine) ; McGue, M. (University of Minnesota) ; McKnight, A.J. (Queen's University of Belfast) ; Medland, S.E. (QIMR Berghofer Medical Research Institute) ; Mellström, D. (University of Gothenburg) ; Metspalu, A. (University of Tartu) ; Mitchell, B.D. (Baltimore Veterans Administration Medical Center) ; Mitchell, P. (University of Sydney) ; Mook-Kanamori, D.O. (Leiden University Medical Center) ; Morris, A.D. (University of Edinburgh) ; Mucci, L.A. (Chan School of Public Health) ; Munroe, P.B. (Queen Mary University of London) ; Nalls, M.A. (Data Tecnica International) ; Nazarian, S. (University of Pennsylvania) ; Nelson, A.E. (University of North Carolina at Chapel Hill) ; Neville, M.J. (Churchill Hospital) ; Newton-Cheh, C. (Massachusetts General Hospital) ; Nielsen, C.S. (Oslo University Hospital) ; Nöthen, M.M. (University Hospital Bonn) ; Ohlsson, C. (Sahlgrenska University Hospital) ; Oldehinkel, A.J. (University of Groningen) ; Orozco, L. (Instituto Nacional de Medicina Genómica) ; Pahkala, K. (University of Turku) ; Pajukanta, P. (David Geffen School of Medicine at UCLA) ; Palmer, C.N.A. (University of Dundee) ; Parra, E.J. (University of Toronto at Mississauga) ; Pattaro, C. (University of Lübeck) ; Pedersen, O. (University of Copenhagen) ; Pennell, C.E. (University of Newcastle) ; Penninx, B.W.J.H. (Amsterdam UMC and Vrije Universiteit) ; Perusse, L. (Université Laval) ; Peters, A. (IBE. LMU Munich) ; Peyser, P.A. (University of Michigan School of Public Health) ; Porteous, D.J. (University of Edinburgh) ; Posthuma, D. (Vrije Universiteit Amsterdam) ; Power, C. (UCL Great Ormond Street Hospital Institute of Child Health) ; Pramstaller, P.P. (University of Lübeck) ; Province, M.A. (Washington University School of Medicine) ; Qi, Q. (Albert Einstein College of Medicine) ; Qu, J. (Wenzhou Medical University) ; Rader, D.J. (University of Pennsylvania) ; Raitakari, O.T. (Turku University Hospital) ; Ralhan, S. (Dyanand Medical College) ; Rallidis, L.S. (University General Hospital Attikon) ; Rao, D.C. (Washington University School of Medicine) ; Redline, S. (Brigham and Women's Hospital) ; Reilly, D.F. (Genetics. Merck Sharp & Dohme) ; Reiner, A.P. (University of Washington) ; Rhee, S.Y. (Kyung Hee University School of Medicine) ; Ridker, P.M. (Brigham and Women's Hospital) ; Rienstra, M. (University Medical Center Groningen) ; Ripatti, S. (University of Helsinki) ; Ritchie, M.D. (University of Pennsylvania) ; Roden, D.M. (Vanderbilt University Medical Center) ; Rosendaal, F.R. (Leiden University Medical Center) ; Rotter, J.I. (Harbor-UCLA Medical Center) ; Rudan, I. (University of Edinburgh) ; Rutters, F. (Amsterdam Public Health Institute) ; Sabanayagam, C. (Duke-NUS Medical School) ; Saleheen, D. (Columbia University) ; Salomaa, V. (Finnish Institute for Health and Welfare) ; Samani, N.J. (Glenfield Hospital) ; Sanghera, D.K. (University of Oklahoma Health Sciences Center) ; Sattar, N. (University of Glasgow) ; Schmidt, B. (University Hospital Essen) ; Schmidt, H. (Medical University of Graz) ; Schmidt, R. (Medical University of Graz) ; Schulze, M.B. (University of Potsdam) ; Schunkert, H. (Technische Universität München) ; Scott, L.J. (University of Michigan School of Public Health) ; Scott, R.J. (University of Newcastle) ; Sever, P. (Imperial College London) ; Shiroma, E.J. (National Institutes of Health) ; Shoemaker, M.B. (Vanderbilt University Medical Center) ; Shu, X.O. (Vanderbilt University Medical Center) ; Simonsick, E.M. (National Institutes of Health) ; Sims, M. (University of Mississippi) ; Singh, J.R. (Central University of Punjab) ; Singleton, A. B. (National Institute on Aging) ; Sinner, M.F. (LMU Munich) ; Smith, J.G. (Lund University) ; Snieder, H. (University Medical Center Groningen) ; Spector, T.D. (King's College London) ; Stampfer, M.J. (Chan School of Public Health) ; Stark, K.J. (University of Regensburg) ; Strachan, D.P. (University of London) ; 't Hart, L.M. (Leiden University Medical Center) ; Tabara, Y. (Kyoto University Graduate School of Medicine) ; Tang, H. (Stanford University School of Medicine) ; Tardif, J.C. (Université de Montréal) ; Thanaraj, T.A. (Department of Genetics and Bioinformatics) ; Timpson, N.J. (University of Bristol) ; Tönjes, A. (University of Leipzig Medical Center) ; Tremblay, A. (Université Laval) ; Tuomi, T. (Folkhälsan Research Center) ; Tuomilehto, J. (King Abdulaziz University) ; Tusié-Luna, M.T. (Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán) ; Uitterlinden, A.G. (University Medical Center Rotterdam) ; van Dam, R.M. (The George Washington University) ; van der Harst, P. (University of Groningen) ; Van der Velde, N. (Amsterdam Public Health) ; van Duijn, C.M. (University Medical Center Rotterdam) ; van Schoor, N.M. (Amsterdam UMC) ; Vitart, V. (University of Edinburgh) ; Völker, U. (University Medicine Greifswald) ; Vollenweider, P. (University of Lausanne) ; Völzke, H. (DZHK (German Centre for Cardiovascular Research)) ; Wacher-Rodarte, N.H. (Centro Médico Nacional Siglo XXI) ; Walker, M. (Newcastle University) ; Wang, Y.X. (Capital Medical University) ; Wareham, N.J. (University of Cambridge School of Clinical Medicine) ; Watanabe, R.M. (Keck School of Medicine of USC) ; Watkins, Hugh (University of Oxford) ; Weir, D.R. (University of Michigan) ; Werge, T.M. (University of Copenhagen) ; Widen, E. (University of Helsinki) ; Wilkens, Lynne R. (University of Hawaii Cancer Center) ; Willemsen, Gonneke (Vrije Universiteit Amsterdam) ; Willett, Walter C. (Chan School of Public Health) ; Wilson, James F. (Western General Hospital) ; Wong, Tien-Yin (Duke-NUS Medical School) ; Woo, Jeong-Taek (Kyung Hee University School of Medicine) ; Wright, Alan F. (University of Edinburgh) ; Wu, Jer-Yuarn (China Medical University) ; Xu, Huichun (University of Maryland School of Medicine) ; Yajnik, Chittaranjan S. (King Edward Memorial Hospital and Research Centre) ; Yokota, Mitsuhiro (Kurume University School of Medicine (Kurume, Japó)) ; Yuan, Jian-Min (University of Pittsburgh) ; Zeggini, Eleftheria (Technical University of Munich) ; Zemel, Babette S. (University of Pennsylvania) ; Zheng, Wei (Vanderbilt University Medical Center) ; Zhu, Xiaofeng (Case Western Reserve University) ; Zmuda, Joseph M. (University of Pittsburgh) ; Zonderman, Alan B. (National Institutes of Health) ; Zwart, John-Anker (University of Oslo) ; Croteau-Chonka, Damien (Brigham and Women's Hospital) ; Vonk, Judith M. (University Medical Center Groningen) ; Le Marchand, Loic (University of Hawaii Cancer Center) ; Chasman, Daniel I. (Brigham and Women's Hospital) ; Cho, Yoon Shin (Hallym University (Chuncheon, Corea del Sud)) ; Heid, Iris M. (University of Regensburg) ; McCarthy, Mark I. (Genentech (South San Francisco, Estats Units)) ; Ng, Maggie C. Y. (Vanderbilt University Medical Center) ; O'Donnell, Christopher J. (Veterans Affairs Boston Healthcare System) ; Rivadeneira, Fernando (Erasmus Medical Center Rotterdam) ; Thorsteinsdottir, Unnur (University of Iceland) ; Sun, Yan V. (Atlanta VA Health Care System) ; Tai, E. Shyong (National University Health System (Singapur)) ; Boehnke, Michael (University of Michigan School of Public Health) ; Deloukas, Panos (King Abdulaziz University (Jeddah, Aràbia Saudita)) ; Justice, Anne E. (Department of Population Health Sciences Geisinger (Danville, Estats Units)) ; Lindgren, Cecilia M. (University of Oxford) ; Loos, Ruth J. F. (Icahn School of Medicine at Mount Sinai (New York, Estats Units)) ; Mohlke, Karen L. (University of North Carolina at Chapel Hill) ; North, Kari E. (University of North Carolina at Chapel Hill) ; Stefansson, Kari (University of Iceland) ; Walters, Robin G. (University of Oxford (Oxford, Regne Unit))) ; Winkler, Thomas W. (University of Regensburg (Regensburg, Alemanya)) ; Young, Kristin L. (University of North Carolina at Chapel Hill) ; Loh, Po-Ru (Harvard Medical School (Boston, Estats Units)) ; Yang, Jian (Westlake Laboratory of Life Sciences and Biomedicine (Hangzhou, Xina)) ; Esko, Tõnu (University of Tartu) ; Assimes, Themistocles (Stanford University School of Medicine) ; Auton, Adam (23andMe (Sunnyvale, Estats Units)) ; Abecasis, Goncalo R. (University of Michigan School of Public Health) ; Willer, Cristen J. (University of Michigan) ; Locke, Adam E. (Washington University School of Medicine) ; Berndt, Sonja I. (National Cancer Institute (Rocville, Estats Units)) ; Lettre, Guillaume (Université de Montréal) ; Frayling, Timothy M. (University of Exeter (Devon, Anglaterra)) ; Okada, Yukinori (The University of Tokyo) ; Wood, Andrew R. (University of Exeter) ; Visscher, PM. (University of Queensland) ; Hirschhorn, Joel N. (Harvard Medical School (Boston, Estats Units)) ; Universitat Autònoma de Barcelona
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40-50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sample sizes. [...]
2022 - 10.1038/s41586-022-05275-y
Nature, Vol. 610 Núm. 7933 (27 2022) , p. 704-712  
2.
19 p, 2.4 MB Multi-phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations / Temprano-Sagrera, Gerard (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Sitlani, Collen M. (University of Washington) ; Bone, William P. (University of Pennsylvania) ; Martín Bórnez, Miguel (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Voight, Benjamin F. (University of Pennsylvania Perelman School of Medicine) ; Morrison, Alanna C. ; Damrauer, Scott M. ; de Vries, Paul S. ; Smith, Nicholas L. ; Sabater-Lleal, Maria (Institut d'Investigació Biomèdica Sant Pau) ; Dehghan, Abbas ; Heath, Adam S. ; Reiner, Alex P. ; Johnson, Andrew ; Richmond, Anne ; Peters, Annette ; van Hylckama Vlieg, Astrid ; McKnight, Barbara ; Psaty, Bruce M. ; Hayward, Caroline ; Ward-Caviness, Cavin ; O'Donnell, Cristopher ; Chasman, Daniel ; Strachan, David P. ; Tregouet, David A. ; Mook-Kanamori, Dennis ; Gill, Dipender ; Thibord, Florian ; Asselbergs, Folkert W. ; Leebeek, Frank W. G. ; Rosendaal, Frits R. ; Davies, Gail ; Homuth, Georg ; Temprano, Gerard ; Campbell, Harry ; Taylor, Herman A. ; Bressler, Jan ; Huffman, Jennifer E. ; Rotter, Jerome I. ; Yao, Jie ; Wilson, James F. ; Bis, Joshua C. ; Hahn, Julie M. ; Desch, Karl C. ; Wiggins, Kerri L. ; Raffield, Laura M. ; Bielak, Lawrence F. ; Yanek, Lisa R. ; Kleber, Marcus E. ; Mueller, Martina ; Kavousi, Maryam ; Mangino, Massimo ; Liu, Melissa ; Brown, Michael R. ; Conomos, Matthew P. ; Jhun, Min-A. ; Chen, Ming-Huei ; de Maat, Moniek P. M. ; Pankratz, Nathan ; Smith, Nicholas L. ; Peyser, Patricia A. ; Elliot, Paul ; Wei, Peng ; Wild, Philipp S. ; Morange, Pierre E. ; van der Harst, Pim ; Yang, Qiong ; Le, Ngoc-Quynh ; Marioni, Riccardo ; Li, Ruifang ; Damrauer, Scott M. ; Cox, Simon R. ; Trompet, Stella ; Felix, Stephan B. ; Völker, Uwe ; Tang, Weihong ; Koenig, Wolfgang ; Jukema, J. Wouter ; Guo, Xiuqing ; Lindstrom, Sara ; Wang, Lu ; Smith, Erin N. ; Gordon, William ; van Hylckama Vlieg, Astrid ; de Andrade, Mariza ; Brody, Jennifer A. ; Pattee, Jack W. ; Haessler, Jeffrey ; Brumpton, Ben M. ; Suchon, Pierre ; Chen, Ming-Huei ; Turman, Constance ; Germain, Marine ; Wiggins, Kerri L. ; MacDonald, James ; Braekkan, Sigrid K. ; Armasu, Sebastian M. ; Pankratz, Nathan ; Jackson, Rabecca D. ; Nielsen, Jonas B. ; Giulianini, Franco ; Puurunen, Marja K. ; Ibrahim, Manal ; Heckbert, Susan R. ; Bammler, Theo K. ; Frazer, Kelly A. ; McCauley, Bryan M. ; Taylor, Kent ; Pankow, James S. ; Reiner, Alexander P. ; Gabrielsen, Maiken E. ; Deleuze, Jean-François ; O'Donnell, Chris J. ; Kim, Jihye ; McKnight, Barbara ; Kraft, Peter ; Hansen, John-Bjarne ; Rosendaal, Frits R. ; Heit, John A. ; Psaty, Bruce M. ; Tang, Weihong ; Kooperberg, Charles ; Hveem, Kristian ; Ridker, Paul M. ; Morange, Pierre-Emmanuel ; Johnson, Andrew D. ; Kabrhel, Christopher ; Trégouët, David-Alexandre ; Smith, Nicholas L. ; Malik, Rainer ; Chauhan, Ganesh ; Traylor, Matthew ; Sargurupremraj, Muralidharan ; Okada, Yukinori ; Mishra, Aniket ; Rutten-Jacobs, Loes ; Giese, Anne-Katrin ; van der Laan, Sander W. ; Gretarsdottir, Solveig ; Anderson, Christopher D. ; Chong, Michael ; Adams, Hieab HH. ; Ago, Tetsuro ; Almgren, Peter ; Amouyel, Philippe ; Ay, Hakan ; Bartz, Traci M. ; Benavente, Oscar R. ; Bevan, Steve ; Boncoraglio, Giorgio B. ; Brown, Robert D. ; Butterworth, Aadam S. ; Carrera, Caty ; Carty, Cara L. ; Chen, Wei-Min ; Cole, John W. ; Correa, Adolfo ; Cotlarciuc, Ioanna ; Cruchaga, Carlos ; Danesh, John ; de Bakker, Paul I. W. ; DeStefano, Anita L. ; den Hoed, Marcel ; Duan, Qing ; Engelter, Stefan T. ; Falcone, Guido J. ; Gottesman, Rebecca F. ; Grewal, Raji P. ; Gudnason, Vilmundur ; Gustafsson, Stefan ; Haessler, Jeffrey ; Harris, Tamara B. ; Hassan, Ahamad ; Havulinna, Aki S. ; Heckbert, Susan R. ; Holliday, Elizabeth G. ; Howard, George ; Hsu, Fang-Chi ; Hyacinth, Hyacinth I. ; Arfan Ikram, M. ; Ingelsson, Erik ; Irvin, Marguerite R. ; Jian, Xueqiu ; Jiménez-Conde, Jordi ; Johnson, Julie A. ; Jukema, J. Wouter ; Kanai, Masahiro ; Keene, Keith L. ; Kissela, Brett M. ; Kleindorfer, Dawn O. ; Kooperberg, Charles ; Kubo, Michiaki ; Lange, Leslie A. ; Langefeld, Carl D. ; Langenberg, Claudia ; Launer, Lenore J. ; Lee, Jin-Moo ; Lemmens, Robin ; Leys, Didier ; Lewis, Cathryn M. ; Lin, Wei-Yu ; Lindgren, Arne G. ; Lorentzen, Erik ; Magnusson, Patrik K. ; Maguire, Jane ; Manichaikul, Ani ; McArdle, Patrick F. ; Meschia, James F. ; Mitchell, Braxton D. ; Mosley, Thomas H. ; Nalls, Michael A. ; Ninomiya, Toshiharu ; O'Donnell, Martin J. ; Psaty, Bruce M. ; Pulit, Sara L. ; Rannikmäe, Kristiina ; Reiner, Alexander P. ; Rexrode, Kathryn M. ; Rice, Kenneth ; Rich, Stephen S. ; Ridker, Paul M. ; Rost, Natalia S. ; Rothwell, Peter M. ; Rotter, Jerome I. ; Rundek, Tatjana ; Sacco, Ralph L. ; Sakaue, Saori ; Sale, Michele M. ; Salomaa, Veikko ; Sapkota, Bishwa R. ; Schmidt, Reinhold ; Schmidt, Carsten O. ; Schminke, Ulf ; Sharma, Pankaj ; Slowik, Agnieszka ; Sudlow, Cathie L. M. ; Tanislav, Christian ; Tatlisumak, Turgut ; Taylor, Kent D. ; Thijs, Vincent N. S. ; Thorleifsson, Gudmar ; Thorsteinsdottir, Unnur ; Tiedt, Steffen ; Trompet, Stella ; Tzourio, Christophe ; van Duijn, Cornelia M. ; Walters, Matthew ; Wareham, Nicholas J. ; Wassertheil-Smoller, Sylvia ; Wilson, James G. ; Wiggins, Kerri L. ; Yang, Qiong ; Yusuf, Salim ; Amin, Najaf ; Aparicio, Hugo S. ; Arnett, Donna K. ; Attia, John ; Beiser, Alexa S. ; Berr, Claudine ; Buring, Julie E. ; Bustamante, Mariana ; Caso, Valeria ; Cheng, Yu-Ching ; Hoan Choi, Seung ; Chowhan, Ayesha ; Cullell, Natalia ; Dartigues, Jean-François ; Delavaran, Hossein ; Delgado, Pilar ; Dörr, Marcus ; Engström, Gunnar ; Ford, Ian ; Gurpreet, Wander S. ; Hamsten, Anders ; Heitsch, Laura ; Hozawa, Aatsushi ; Ibanez, Laura ; Ilinca, Andrea ; Ingelsson, Martin ; Iwasaki, Motoki ; Jackson, Rebecca D. ; Jood, Katarina ; Jousilahti, Pekka ; Kaffashian, Sara ; Kalra, Lalit ; Kamouchi, Masahiro ; Kitazono, Takanari ; Kjartansson, Olafur ; Kloss, Manja ; Koudstaal, Peter J. ; Krupinski, Jerzy ; Labovitz, Daniel L. ; Laurie, Cathy C. ; Levi, Christhoper R. ; Li, Linxin ; Lind, Lars ; Lindgren, Cecilia M. ; Lioutas, Vasileios ; Mei Liu, Yong ; Lopez, Oscar L. ; Makoto, Hirata ; Martinez-Majander, Nicolas ; Matsuda, Koichi ; Minegishi, Naoko ; Montaner, Joan ; Morris, Andrew P. ; Muiño, Elena ; Müller-Nurasyid, Martina ; Norrving, Bo ; Ogishima, Soichi ; Parati, Eugenio A. ; Reddy Peddareddygari, Leema ; Pedersen, Nancy L. ; Pera, Joanna ; Perola, Markus ; Pezzini, Alessandro ; Pileggi, Silvana ; Rabionet, Raquel ; Riba-Llena, Iolanda ; Ribasés, Marta ; Romero, Jose R. ; Roquer, Jaume ; Rudd, Anthony G. ; Sarin, Antti-Pekka ; Sarju, Ralhan ; Sarnowski, Chloe ; Sasaki, Makoto ; Satizabal, Claudia L. ; Satoh, Mamoru ; Sattar, Naveed ; Sawada, Norie ; Sibolt, Gerli ; Sigurdsson, Ásgeir ; Smith, Albert ; Sobue, Kenji ; Soriano-Tárraga, Carolina ; Stanne, Tara ; Colin Stine, O. ; Stott, David J. ; Strauch, Konstantin ; Takai, Takako ; Tanaka, Hideo ; Tanno, Kozo ; Teumer, Alexander ; Tomppo, Liisa ; Torres-Aguila, Nuria P. ; Touze, Emmanuel ; Tsugane, Shoichiro ; Uitterlinden, Aandre G. ; Valdimarsson, Einar M. ; van der Lee, Sven J. ; Völzke, Henry ; Wakai, Kenji ; Weir, David ; Williams, Stephen R. ; Wolfe, Charles D.A. ; Wong, Quenna ; Xu, Huichun ; Yamaji, Taiki ; Sanghera, Dharambir K. ; Melander, Olle ; Jern, Christina ; Strbian, Daniel ; Fernandez-Cadenas, Israel ; Longstreth, W.T. ; Rolfs, Arndt ; Hata, Jun ; Woo, Daniel ; Rosand, Jonathan ; Pare, Guillaume ; Hopewell, Jemma C. ; Saleheen, Danish ; Stefansson, Kari ; Worrall, BradfordB. ; Kittner, Steven J. ; Seshadri, Sudha ; Fornage, Myriam ; Markus, Hugh S. ; Howson, Joana M. M. ; Kamatani, Yoichiro ; Debette, Stephanie ; Dichgans, Martin ; Universitat Autònoma de Barcelona
Multi-phenotype analysis of genetically correlated phenotypes can increase the statistical power to detect loci associated with multiple traits, leading to the discovery of novel loci. This is the first study to date to comprehensively analyze the shared genetic effects within different hemostatic traits, and between these and their associated disease outcomes. [...]
2022 - 10.1111/jth.15698
Journal of Thrombosis and Haemostasis, Vol. 20 Núm. 6 (01 2022) , p. 1331-1349  
3.
11 p, 1.9 MB A complex interplay between H2A.Z and HP1 isoforms regulates pericentric heterochromatin / González Miranda, Jessica (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Bosch-Presegué, Laia (Institut de Recerca I Innovació en Ciències de La Vida i de La Salut a La Catalunya Central) ; Marazuela Duque, Anna (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Guitart-Solanes, Anna (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Espinosa-Alcantud, María Dolores (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Fernandez, Agustín F. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Brown, Jeremy P. (Department of Immunology and Inflammation. The Hammersmith Hospital) ; Ausió, Juan (University of Victoria. Department of Biochemistry and Microbiology) ; Vazquez Prat, Berta Nieves (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Singh, Prim B. (Nazarbayev University School of Medicine) ; Fraga, Mario F. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Vaquero, Alejandro (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Pericentric heterochromatin (PCH) plays an essential role in the maintenance of genome integrity and alterations in PCH have been linked to cancer and aging. HP1 α, β, and γ, are hallmarks of constitutive heterochromatin that are thought to promote PCH structure through binding to heterochromatin-specific histone modifications and interaction with a wide range of factors. [...]
2023 - 10.3389/fcell.2023.1293122
Frontiers in Cell and Developmental Biology, Vol. 11 (2023) , p. 1293122  
4.
44 p, 10.1 MB Intra- and interchromosomal contact mapping reveals the Igh locus has extensive conformational heterogeneity and interacts with B-lineage genes / Mielczarek, O. (Nuclear Dynamics Programme. Babraham Institute. Babraham Research Campus) ; Rogers, C.H. (Immunology Programme. Babraham Institute. Babraham Research Campus) ; Zhan, Y. (Friedrich Miescher Institute for Biomedical Research) ; Matheson, L.S. (Immunology Programme. Babraham Institute. Babraham Research Campus) ; Stubbington, M.J.T. (Nuclear Dynamics Programme. Babraham Institute. Babraham Research Campus) ; Schoenfelder, S. (Nuclear Dynamics Programme. Babraham Institute. Babraham Research Campus) ; Bolland, D.J. (Immunology Programme. Babraham Institute. Babraham Research Campus) ; Javierre, B. M (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Wingett, S.W. (Bioinformatics Group. Babraham Institute. Babraham Research Campus) ; Várnai, C. (Nuclear Dynamics Programme. Babraham Institute. Babraham Research Campus) ; Segonds-Pichon, A. (Bioinformatics Group. Babraham Institute. Babraham Research Campus) ; Conn, S.J. (Flinders Health and Medical Research Institute. College of Medicine and Public Health. Flinders University) ; Krueger, F. (Babraham Institute) ; Andrews, S. (Babraham Institute) ; Fraser, Peter (Nuclear Dynamics Programme. Babraham Institute. Babraham Research Campus) ; Giorgetti, L. (Friedrich Miescher Institute for Biomedical Research) ; Corcoran, A.E. (Immunology Programme. Babraham Institute. Babraham Research Campus)
To produce a diverse antibody repertoire, immunoglobulin heavy-chain (Igh) loci undergo large-scale alterations in structure to facilitate juxtaposition and recombination of spatially separated variable (V), diversity (D), and joining (J) genes. [...]
2023 - 10.1016/j.celrep.2023.113074
Cell reports, Vol. 42 Núm. 9 (26 2023) , p. 113074  
5.
33 p, 8.1 MB CEBPA phase separation links transcriptional activity and 3D chromatin hubs / Christou-Kent, Marie (Centre for Genomic Regulation (CRG). The Barcelona Institute of Science and Technology) ; Cuartero, Sergi (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Garcia-Cabau, Carla (Institute for Research in Biomedicine (IRB Barcelona)) ; Ruehle, Julia (Centre for Genomic Regulation (CRG). The Barcelona Institute of Science and Technology) ; Naderi, Julian (Department of Genome Regulation. Max Planck Institute for Molecular Genetics) ; Erber, Julia (Centre for Genomic Regulation (CRG). The Barcelona Institute of Science and Technology) ; Neguembor, Maria Victoria (Centre for Genomic Regulation (CRG). The Barcelona Institute of Science and Technology) ; Plana-Carmona, Marcos (Centre for Genomic Regulation (CRG). The Barcelona Institute of Science and Technology) ; Alcoverro Bertran, Marc (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; de Andrés-Aguayo, Luisa (Centre de Regulació Genòmica) ; Klonizakis, Antonios (Centre for Genomic Regulation (CRG). The Barcelona Institute of Science and Technology) ; Julià Vilella, Eric (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Lynch, Cian (Altos Labs. Cambridge Institute of Science) ; Serrano, Manuel (Altos Labs. Cambridge Institute of Science) ; Hnisz, Denes (Department of Genome Regulation. Max Planck Institute for Molecular Genetics) ; Salvatella, Xavier (Institució Catalana de Recerca i Estudis Avançats) ; Graf, Thomas (Universitat Pompeu Fabra) ; Stik, Grégoire (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Cell identity is orchestrated through an interplay between transcription factor (TF) action and genome architecture. The mechanisms used by TFs to shape three-dimensional (3D) genome organization remain incompletely understood. [...]
2023 - 10.1016/j.celrep.2023.112897
Cell reports, Vol. 42 Núm. 8 (29 2023) , p. 112897  
6.
12 p, 1.3 MB Gene-level association analysis of systemic sclerosis : A comparison of African-Americans and White populations / Gorlova, Olga Y. (Dartmouth College) ; Li, Yafang (Dartmouth College) ; Gorlov, Ivan (Dartmouth College) ; Ying, Jun (University of Texas McGovern Medical School) ; Chen, Wei V. (UT MD Anderson Cancer Center) ; Assassi, Shervin (University of Texas McGovern Medical School) ; Reveille, John D. (University of Texas McGovern Medical School) ; Arnett, Frank C. (University of Texas McGovern Medical School) ; Zhou, Xiaodong (University of Texas McGovern Medical School) ; Bossini-Castillo, Lara (Wellcome Trust Sanger Institute (Regne Unit)) ; Lopez-Isac, Elena (Institute of Parasitology and Biomedicine López-Neyra) ; Acosta-Herrera, Marialbert (Institute of Parasitology and Biomedicine López-Neyra) ; Gregersen, Peter K. (Feinstein Institute for Medical Research) ; Lee, Annette T. (Robert S. Feinstein Institute for Medical Research) ; Steen, Virginia D. (Georgetown University Medical Center) ; Fessler, Barri J. (University of Alabama-Birmingham) ; Khanna, Dinesh (University of Michigan) ; Schiopu, Elena (University of Michigan) ; Silver, Richard M. (Medical University of South Carolina) ; Molitor, Jerry A. (University of Minnesota) ; Furst, Daniel E. (University of Florence) ; Kafaja, Suzanne (University of California-Los Angeles) ; Simms, Robert W. (Boston University) ; Lafyatis, Robert A. (University of Pittsburgh) ; Carreira, Patricia E (Hospital Universitario de Madrid) ; Simeón-Aznar, Carmen Pilar (Hospital Universitari Vall d'Hebron) ; Castellvi, Ivan (Institut d'Investigació Biomèdica Sant Pau) ; Beltran, Emma (Hospital Universitari i Politècnic La Fe (València)) ; Ortego, Norberto (University Hospital San Cecilio) ; Amos, Christopher I. (Dartmouth College) ; Martin, Javier (Institute of Parasitology and Biomedicine López-Neyra. IPBLN-CSIC) ; Mayes, Maureen D. (University of Texas McGovern Medical School) ; Universitat Autònoma de Barcelona
Gene-level analysis of ImmunoChip or genome-wide association studies (GWAS) data has not been previously reported for systemic sclerosis (SSc, scleroderma). The objective of this study was to analyze genetic susceptibility loci in SSc at the gene level and to determine if the detected associations were shared in African-American and White populations, using data from ImmunoChip and GWAS genotyping studies. [...]
2018 - 10.1371/journal.pone.0189498
PloS one, Vol. 13 Núm. 1 (january 2018) , p. e0189498  
7.
13 p, 2.0 MB Susceptibility Evaluation to Fire Blight and Genome-Wide Associations within a Collection of Asturian Apple Accessions / García-Fernández, Belén (Regional Service for Agrofood Research and Development) ; Dolcet-Sanjuan, Ramon (IRTA Fruitcentre) ; Micheletti, Diego (Research and Innovation Center) ; Antón-Díaz, María José (Regional Service for Agrofood Research and Development) ; Solsona, Cristina (IRTA Fruitcentre) ; Fernández Ramos, Mercedes (Regional Service for Agrofood Research and Development) ; Abad Morejón de Girón, Xavier (Unitat mixta d'investigació IRTA-UAB en Sanitat Animal. Centre de Recerca en Sanitat Animal) ; Dapena, Enrique (Regional Service for Agrofood Research and Development)
Fire blight, caused by Erwinia amylovora, is one of the most devastating apple diseases. The selection of cultivars of low susceptibility and the study of the genetic mechanisms of the disease play important roles in fire blight management. [...]
2023 - 10.3390/plants12234068
Plants, Vol. 12 (december 2023)  
8.
18 p, 4.4 MB TP53 Abnormalities Are Underlying the Poor Outcome Associated with Chromothripsis in Chronic Lymphocytic Leukemia Patients with Complex Karyotype / Ramos-Campoy, Silvia (Institut Hospital del Mar d'Investigacions Mèdiques) ; Puiggros, Anna (Institut Hospital del Mar d'Investigacions Mèdiques) ; Kamaso, Joanna (Institut Hospital del Mar d'Investigacions Mèdiques) ; Beà, Sílvia (Centro de Investigación Biomédica en Red de Cáncer) ; Bougeon, Sandrine (Lausanne University Hospital) ; Larráyoz, María José (Universidad Pública de Navarra) ; Costa, Dolors (Centro de Investigación Biomédica en Red de Cáncer) ; Parker, Helen (University of Southampton) ; Rigolin, Gian Matteo (St. Anna University Hospital) ; Blanco, María Laura (Institut d'Investigació Biomèdica Sant Pau) ; Collado, Rosa (Consorcio Hospital General Universitario) ; Ancín, Idoya (Hospital Universitario de Cruces (Barakaldo, País Basc)) ; Salgado, Rocío (Fundación Jiménez Díaz) ; Moro-García, Marco A. (Hospital Universitario Central de Asturias) ; Baumann, Tycho (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Gimeno, Eva (Institut Hospital del Mar d'Investigacions Mèdiques) ; Moreno, Carol (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Salido, Marta (Institut Hospital del Mar d'Investigacions Mèdiques) ; Calvo, Xavier (Institut Hospital del Mar d'Investigacions Mèdiques) ; Calasanz, M.J (Universidad Pública de Navarra) ; Cuneo, Antonio (Hematology Section. St. Anna University Hospital) ; Nguyen-Khac, Florence (Sorbonne University) ; Oscier, David (Royal Bournemouth Hospital) ; Haferlach, Claudia (MLL Munich Leukemia Laboratory) ; Strefford, Jonathan C (University of Southampton) ; Schoumans, Jacqueline (Lausanne University Hospital) ; Espinet, Blanca (Institut Hospital del Mar d'Investigacions Mèdiques) ; Universitat Autònoma de Barcelona
Chromothripsis (cth) has been associated with a dismal outcome and poor prognosis factors in patients with chronic lymphocytic leukemia (CLL). Despite being correlated with high genome instability, previous studies have not assessed the role of cth in the context of genomic complexity. [...]
2022 - 10.3390/cancers14153715
Cancers, Vol. 14 Núm. 15 (august 2022) , p. 3715  
9.
14 p, 1.2 MB GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways / López-Isac, Elena (Institute of Parasitology and Biomedicine López-Neyra) ; Acosta-Herrera, Marialbert (Institute of Parasitology and Biomedicine López-Neyra) ; Kerick, Martin (Institute of Parasitology and Biomedicine López-Neyra) ; Assassi, Shervin (The University of Texas Health Science Center-Houston) ; Satpathy, Ansuman (Stanford University) ; Granja, Jeffrey (Stanford University) ; Mumbach, Maxwell (Stanford University) ; Beretta, Lorenzo (Referral Center for Systemic Autoimmune Diseases) ; Simeón-Aznar, Carmen Pilar (Hospital Universitari Vall d'Hebron) ; Carreira, Patricia E. (Hospital Universitario 12 de Octubre) ; Ortego-Centeno, Norberto (San Cecilio Clinic University Hospital) ; Castellvi, Ivan (Institut d'Investigació Biomèdica Sant Pau) ; Bossini-Castillo, Lara (Wellcome Trust Sanger Institute (Regne Unit)) ; Carmona, F. David (Universidad de Granada) ; Orozco, Gisela (The University of Manchester) ; Hunzelmann, Nicolas (University of Cologne) ; Distler, Jörg H. W. (University of Erlangen-Nuremberg) ; Franke, Andre (Christian-Albrechts-University of Kiel) ; Lunardi, Claudio (Università degli Studi di Verona) ; Moroncini, Gianluca (Università Politecnica delle Marche and Ospedali Riuniti) ; Gabrielli, Armando (Università Politecnica delle Marche and Ospedali Riuniti) ; de Vries-Bouwstra, Jeska (Leiden University Medical Center) ; Wijmenga, Cisca (University of Groningen) ; Koeleman, Bobby (University Medical Center Utrecht) ; Nordin, Annika (Karolinska Institutet (Estocolm, Suècia)) ; Padyukov, Leonid (Karolinska Institutet (Estocolm, Suècia)) ; Hoffmann-Vold, Anna-Maria (Oslo University Hospital) ; Lie, Benedicte A. (University of Oslo and Oslo University Hospital) ; Ríos, Raquel (San Cecilio Clinic University Hospital) ; Callejas Rubio, Jose Luis (San Cecilio Clinic University Hospital) ; Vargas-Hitos, José Antonio (Hospital Virgen de las Nieves (Granada, Andalusia)) ; García-Portales, Rosa (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Camps, María Teresa (Carlos Haya Hospital) ; Fernández-Nebro, Antonio (Carlos Haya Hospital) ; González-Escribano, Maria Francisca (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; García-Hernández, Francisco Jose (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Castillo, María Jesús (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Aguirre, Mª Angeles (Hospital Reina Sofía/IMIBIC) ; Gómez-Gracia, Inmaculada (Hospital Reina Sofía/IMIBIC) ; Fernández-Gutiérrez, B. (San Carlos Clinic Hospital) ; Rodríguez-Rodríguez, L. (San Carlos Clinic Hospital) ; García de la Peña, Paloma (Madrid Norte Sanchinarro Hospital) ; Vicente-Rabaneda, Esther Francisca (Hospital Universitario de la Princesa (Madrid)) ; Andréu, José Luis (Puerta de Hierro Hospital-Majadahonda) ; Fernández de Castro, Mónica (Puerta de Hierro Hospital-Majadahonda) ; López-Longo, Francisco Javier (Hospital General Universitario Gregorio Marañón) ; Martínez, Lina Patricia (Hospital General Universitario Gregorio Marañón) ; Fonollosa, Vicenç (Hospital Universitari Vall d'Hebron) ; Guillén, Alfredo Chávez (Hospital Universitari Vall d'Hebron) ; Espinosa, Gerard (Hospital Clínic i Provincial de Barcelona) ; Tolosa-Vilella, Carles (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Pros, Ana (Hospital del Mar (Barcelona, Catalunya)) ; Rodríguez-Carballeira, M. (Hospital Universitari MútuaTerrassa) ; Narváez, Francisco J. (Hospital Universitari de Bellvitge) ; Rubio Rivas, Manuel (Hospital Universitari de Bellvitge) ; Ortiz-Santamaría, None (Hospital Granollers) ; Madroñero, A.B. (Hospital General Universitario San Jorge (Osca, Aragó)) ; González-Gay, M.A. (Universidad de Cantabria) ; Díaz, B. (Hospital Universitario Central de Asturias) ; Trapiella, L. (Hospital Universitario Central de Asturias) ; Sousa, A. (Hospital Xeral-Complexo Hospitalario Universitario de Vigo) ; Egurbide, M.V. (Hospital Universitario Cruces) ; Fanlo-Mateo, P. (Hospital Virgen del Camino (Pamplona)) ; Sáez-Comet, L. (Hospital Universitario Miguel Servet (Saragossa)) ; Díaz, F. (Hospital Universitario de Canarias) ; Hernández, None (Hospital Universitario de Canarias) ; Beltrán, E. (Hospital General Universitario de Valencia) ; Román-Ivorra, J.A. (Hospital Universitari i Politècnic La Fe de València) ; Grau, E. (Hospital Universitari i Politècnic La Fe de València) ; Alegre-Sancho, Juan José (Hospital Universitari Doctor Peset) ; Freire, M. (Complexo Hospitalario Universitario de Vigo) ; Blanco-García, F.J (INIBIC-Hospital Universitario A Coruña) ; Oreiro, N. (INIBIC-Hospital Universitario A Coruña) ; Witte, T. (Hannover Medical School) ; Kreuter, A. (Ruhr University Bochum) ; Riemekasten, G. (University of Lübeck) ; Airò, Paolo (Service of Rheumatology and Clinic Immunology Spedali Civili) ; Magro-Checa, César (Leiden University Medical Center) ; Voskuyl, A.E. (Amsterdam UMC. University Medical Center) ; Vonk, Madelon C. (Radboud University Nijmegen Medical Center) ; Hesselstrand, Roger (Lund University) ; Proudman, Susanna (Royal Adelaide Hospital and University of Adelaide) ; Stevens, Wendy (St. Vincent's Hospital) ; Nikpour, Mandana (The University of Melbourne at St. Vincent's Hospital) ; Zochling, Jane M. (University of Tasmania) ; Sahhar, Joanne (Monash Medical Centre) ; Roddy, Janet (Cincinnati Children's Hospital Medical Center (CCHMC). Center for Fetal and Placental Research) ; Nash, Peter (Sunshine Coast Rheumatology) ; Tymms, Kathleen (Canberra Rheumatology) ; Rischmueller, Maureen (The Queen Elizabeth Hospital) ; Lester, S. (The Queen Elizabeth Hospital) ; Vyse, Timothy (King's College London) ; Herrick, Ariane (NIHR Manchester Biomedical Research Centre) ; Worthington, Jane (The University of Manchester) ; Denton, Christopher P (Royal Free and University College Medical School) ; Allanore, Yannick (Paris Descartes University) ; Brown, Matthew A. (Princess Alexandra Hospital) ; Radstake, Timothy R. D. J. (University Medical Center Utrecht) ; Fonseca, Carmen (Royal Free and University College Medical School) ; Chang, Howard Y. (Stanford University) ; Mayes, Maureen D (The University of Texas Health Science Center-Houston) ; Martín, Javier (Institute of Parasitology and Biomedicine López-Neyra) ; Universitat Autònoma de Barcelona
Systemic sclerosis (SSc) is an autoimmune disease that shows one of the highest mortality rates among rheumatic diseases. We perform a large genome-wide association study (GWAS), and meta-analysis with previous GWASs, in 26,679 individuals and identify 27 independent genome-wide associated signals, including 13 new risk loci. [...]
2019 - 10.1038/s41467-019-12760-y
Nature communications, Vol. 10 Núm. 1 (january 2019) , p. 4955  
10.
63 p, 25.7 MB A draft human pangenome reference / Liao, Wen-Wei (Washington University School of Medicine) ; Asri, Mobin (University of California) ; Ebler, Jana (Heinrich Heine University) ; Doerr, Daniel (Heinrich Heine University) ; Haukness, Marina (University of California) ; Hickey, Glenn (University of California) ; Lu, Shuangjia (Yale University School of Medicine) ; Lucas, Julian K. (University of California) ; Monlong, Jean (University of California) ; Abel, Haley J. (Washington University School of Medicine) ; Buonaiuto, Silvia (Consiglio Nazionale delle Ricerche. Istituto di Genetica e Biofisica) ; Chang, Xian H. (University of California) ; Cheng, Haoyu (Harvard Medical School) ; Chu, Justin (Dana-Farber Cancer Institute (Boston, Estats Units d'Amèrica)) ; Colonna, Vincenza (University of Tennessee Health Science Center) ; Eizenga, Jordan (University of California) ; Feng, Xiaowen (Harvard Medical School) ; Fischer, Christian (University of Tennessee Health Science Center) ; Fulton, Robert S. (Washington University School of Medicine) ; Garg, Shilpa (Technical University of Denmark) ; Groza, Cristian (McGill University) ; Guarracino, Andrea (Tecnopolo umano. Centro di ricerca sulla genomica) ; Harvey, William T. (University of Washington School of Medicine) ; Heumos, Simon (University of Tübingen) ; Howe, Kerstin (Wellcome Trust Sanger Institute (Regne Unit)) ; Jain, Miten (Northeastern University (USA)) ; Lu, Tsung-Yu (University of Southern California) ; Markello, Charles (University of California) ; Martin, Fergal J. (Wellcome Genome Campus (UK)) ; Mitchell, Matthew W. (Coriell Institute for Medical Research (USA)) ; Munson, Katherine M. (University of Washington School of Medicine) ; Mwaniki, Moses Njagi (Università di Pisa) ; Novak, Adam M. (University of California) ; Olsen, Hugh E. (University of California) ; Pesout, Trevor (University of California) ; Porubsky, David (University of Washington School of Medicine) ; Prins, Pjotr (University of Tennessee Health Science Center) ; Sibbesen, Jonas A. (University of Copenhagen) ; Sirén, Jouni (University of California) ; Tomlinson, Chad (Washington University School of Medicine) ; Villani, Flavia (University of Tennessee Health Science Center) ; Vollger, Mitchell R. (University of Washington School of Medicine) ; Antonacci-Fulton, Lucinda L. (Washington University School of Medicine) ; Baid, Gunjan (Google (USA)) ; Baker, Carl A. (University of Washington School of Medicine) ; Belyaeva, Anastasiya (Google (USA)) ; Billis, Konstantinos (Wellcome Genome Campus (UK)) ; Carroll, Andrew (Google (USA)) ; Chang, Pi-Chuan (Google (USA)) ; Cody, Sarah (Washington University School of Medicine) ; Cook, Daniel E. (Google (USA)) ; Cook-Deegan, Robert M. (Arizona State University) ; Cornejo, Omar E. (University of California) ; Diekhans, Mark (University of California) ; Ebert, Peter (Heinrich Heine University) ; Fairley, Susan (Wellcome Genome Campus (UK)) ; Fedrigo, Olivier (The Rockefeller University) ; Felsenfeld, Adam L. (National Institutes of Health (USA)) ; Formenti, Giulio (The Rockefeller University) ; Frankish, Adam (Wellcome Genome Campus (UK)) ; Gao, Yan (The Children's Hospital of Philadelphia) ; Garrison, Nanibaa' A. (University of California) ; Giron, Carlos Garcia (Wellcome Genome Campus (UK)) ; Green, Richard E. (Dovetail Genomics) ; Haggerty, Leanne (Wellcome Genome Campus (UK)) ; Hoekzema, Kendra (University of Washington School of Medicine) ; Hourlier, Thibaut (Wellcome Genome Campus (UK)) ; Ji, Hanlee P. (Stanford University School of Medicine) ; Kenny, Eimear E. (Icahn School of Medicine at Mount Sinai) ; Koenig, Barbara A. (University of California) ; Kolesnikov, Alexey (Google (USA)) ; Korbel, Jan O. (European Molecular Biology Laboratory) ; Kordosky, Jennifer (University of Washington School of Medicine) ; Koren, Sergey (National Institutes of Health (USA)) ; Lee, HoJoon (Stanford University School of Medicine) ; Lewis, Alexandra P. (University of Washington School of Medicine) ; Magalhães, Hugo (Heinrich Heine University) ; Marco-Sola, Santiago (Universitat Autònoma de Barcelona. Departament d'Arquitectura de Computadors i Sistemes Operatius) ; Marijon, Pierre (Heinrich Heine University) ; McCartney, Ann (National Institutes of Health (USA)) ; McDaniel, Jennifer (National Institute of Standards and Technology (USA)) ; Mountcastle, Jacquelyn (The Rockefeller University) ; Nattestad, Maria (Google (USA)) ; Nurk, Sergey (National Institutes of Health (USA)) ; Olson, Nathan D. (National Institute of Standards and Technology (USA)) ; Popejoy, Alice B. (University of California) ; Puiu, Daniela (Johns Hopkins University) ; Rautiainen, Mikko (National Institutes of Health (USA)) ; Regier, Allison A. (Washington University School of Medicine) ; Rhie, Arang (National Institutes of Health (USA)) ; Sacco, Samuel (University of California) ; Sanders, Ashley D. (Max Delbrück Center for Molecular Medicine in the Helmholtz Association) ; Schneider, Valerie A. (National Institutes of Health (USA)) ; Schultz, Baergen I. (National Institutes of Health (USA)) ; Shafin, Kishwar (Google (USA)) ; Smith, Michael W. (National Institutes of Health (USA)) ; Sofia, Heidi J. (National Institutes of Health (USA)) ; Abou Tayoun, Ahmad N. (Mohammed Bin Rashid University of Medicine and Health Sciences) ; Thibaud-Nissen, Françoise (National Institutes of Health (USA)) ; Tricomi, Francesca Floriana (Wellcome Genome Campus (UK)) ; Wagner, Justin (National Institute of Standards and Technology (USA)) ; Walenz, Brian (National Institutes of Health (USA)) ; Wood, Jonathan M. D. (Wellcome Trust Sanger Institute (Regne Unit)) ; Zimin, Aleksey V. (Johns Hopkins University) ; Bourque, Guillaume (Kyoto University) ; Chaisson, Mark (University of Southern California) ; Flicek, Paul (Wellcome Genome Campus (UK)) ; Phillippy, Adam M. (National Institutes of Health (USA)) ; Zook, Justin M. (National Institute of Standards and Technology (USA)) ; Eichler, Evan E. (Howard Hughes Medical Institute) ; Haussler, David (Howard Hughes Medical Institute) ; Wang, Ting (Washington University School of Medicine) ; Jarvis, Erich (The Rockefeller University) ; Miga, Karen H. (University of California) ; Garrison, Erik (University of Tennessee Health Science Center) ; Marschall, Tobias (Heinrich Heine University) ; Hall, Ira M. (Yale University School of Medicine) ; Li, Heng (Harvard Medical School) ; Paten, Benedict (University of California)
Here the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetically diverse individuals1. [...]
2023 - 10.1038/s41586-023-05896-x
Nature, Vol. 617 (May 2023) , p. 312-324  

Artículos : Encontrados 187 registros   1 - 10siguientefinal  ir al registro:
Documentos de investigación Encontrados 16 registros  1 - 10siguiente  ir al registro:
1.
29 p, 2.9 MB Scalable, accessible, and reproducible reference genome assembly and evaluation in Galaxy / Larivière, Delphine (Pennsylvania State University) ; Abueg, Linelle Ann L. (The Rockefeller University) ; Brajuka, Nadolina (The Rockefeller University) ; Gallardo, Cristobal (Albert-Ludwigs-University Freiburg) ; Grüning, Björn (Albert-Ludwigs-University Freiburg) ; Ko, Byung June (Seoul National University) ; Ostrovsky, Alexander (Johns Hopkins University) ; Palmada-Flores, Marc (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Pickett, Brandon (National Institutes of Health. National Human Genome Research Institute (USA)) ; Rabbani, Keon (University of Southern California) ; Balacco, Jennifer (The Rockefeller University) ; Chaisson, Mark (University of Southern California) ; Cheng, Haoyu (Harvard Medical School) ; Collins, Joanna (Wellcome Sanger Institute (Regne Unit)) ; Denisova, Alexandra (Lomonosov Moscow State University) ; Fedrigo, Olivier (The Rockefeller University) ; Gallo, Guido (Università degli Studi di Milano) ; Giani, Alice Maria (Weill Cornell Medical College (USA)) ; Gooder, Grenville MacDonald (The Rockefeller University) ; Jain, Nivesh (The Rockefeller University) ; Johnson, Cassidy (The Rockefeller University) ; Kim, Heebal (Seoul National University) ; Lee, Chul (The Rockefeller University) ; Marques-Bonet, Tomas 1975- (Institut Català de Paleontologia Miquel Crusafont) ; O'Toole, Brian (The Rockefeller University) ; Rhie, Arang (National Institutes of Health. National Human Genome Research Institute (USA)) ; Secomandi, Simona (University of Cyprus) ; Sozzoni, Marcella (Università di Firenze) ; Tilley, Tatiana (The Rockefeller University) ; Uliano da Silva, Marcela (Wellcome Sanger Institute (Regne Unit)) ; van den Beek, Marius (Pennsylvania State University) ; Waterhouse, Robert (University of Lausanne) ; Phillippy, Adam M. (National Institutes of Health. National Human Genome Research Institute (USA)) ; Jarvis, Erich (The Rockefeller University) ; Schatz, Michael (Johns Hopkins University) ; Nekrutenko, Anton (Pennsylvania State University) ; Formenti, Giulio (The Rockefeller University)
Improvements in genome sequencing and assembly are enabling high-quality reference genomes for all species. However, the assembly process is still laborious, computationally and technically demanding, lacks standards for reproducibility, and is not readily scalable. [...]
2024 - 10.1101/2023.06.28.546576  
2.
14.7 MB Diagnòstic dels trastorns genètics de la substància blanca cerebral i identificació de noves malalties mitjançant tècniques de seqüenciació massiva / Rodríguez-Palmero Seuma, Agustí ; Macaya Ruiz, Alfons, dir. ; Pujol, Aurora, 1968-, dir.
Els trastorns genètics de la substància blanca cerebral (Genetic White Matter Disorders; GWMDs) afecten predominantment a la producció i manteniment de la mielina del sistema nerviós central. L'abordatge diagnòstic "clàssic", basat en estudis genètics dirigits a partir de la sospita clínica, permet el diagnòstic molecular en només la meitat dels pacients. [...]
Los trastornos genéticos de la sustancia blanca cerebral (Genetic White Matter Disorders; GWMDs) afectan predominantemente a la producción y mantenimiento de la mielina del sistema nervioso central. [...]
Genetic White Matter Disorders (GWMDs) predominantly affect the production or maintenance of myelin in the central nervous system. The "classic" diagnostic approach, based on targeted genetic studies, allows molecular diagnosis in only half of patients. [...]

2022  
3.
9.3 MB Development of a high-quality annotated reference genome and evolutionary genomics analysis of chromosomal inversions in Drosophila subobscura / Karageorgiou, Charikleia ; Rodríguez-Trelles, Francisco, dir. ; Tarrío Fernández, Rosa Maria, dir.
Drosophila subobscura és una espècie del grup obscura, un dels deu grups d'espècies coneguts del subgènere Sophophora, gènere Drosophila. Originàriament endèmica de la regió paleàrtica, l'espècie va colonitzar recentment Amèrica del Nord i del Sud. [...]
Drosophila subobscura es una especie del grupo obscura, uno de los diez grupos de especies conocidos del subgénero Sophophora, género Drosophila. Originariamente endémica de la región paleártica, la especie colonizó recientemente América del Norte y del Sur. [...]
Drosophila subobscura belongs to the obscura species group, which is one of the known ten species groups of the subgenus Sophophora of the genus Drosophila. Originally endemic from the Palearctic region, it has recently colonized North and South America. [...]

2022  
4.
2 p, 816.6 KB Synthetic all the way : engineering a synthetic yeast genome / Bárcenas, Oriol ; Universitat Autònoma de Barcelona. Facultat de Biociències
Synthetic biology is a rapidly evolving field that aims to design new biological systems (creating a chassis) or improve those already present in nature.
2022
Grau en Biotecnologia [815]  
5.
1 p, 1.4 MB Desenvolupament i anàlisi de GEMs : una revisió de la metodologia de construcció dels GEMs / Godayol i Farran, Bernat ; Universitat Autònoma de Barcelona. Facultat de Biociències
Un Genome-Scale Metabolic Model és un model computacional que representa la xarxa metabòlica d'un organisme. Aquesta xarxa es construeix a partir de l'associació entre els gens anotats d'un genoma, les proteïnes que expressen i les reaccions que catalitzen. [...]
2021
Grau en Biotecnologia [815]  
6.
290 p, 7.7 MB Chromatin remodeling during mouse spermatogenesis : functional and evolutionary implications / Vara González, Covadonga ; Ruiz-Herrera Moreno, Aurora, dir.
La línia germinal conté el passat i el futur d'una espècie, en la qual la informació genètica parental es recombina mitjançant la meiosi i és transmesa a la descendència. Així, entendre com el genoma s'organitza i es regula en l'espai nuclear durant la formació de cèl·lules germinals és essencial per comprendre les bases de la fertilitat i el seu impacte en la diversitat genètica. [...]
La línea germinal contiene el pasado y el futuro de una especie, en la que la información genética parental se recombina mediante la meiosis y es transmitida a la descendencia. Así, entender como el genoma se organiza y se regula en el espacio nuclear durante la formación de células germinales es esencial para comprender las bases de la fertilidad y su impacto en la diversidad genética. [...]
The germline holds the past and the future of a species, as parental genetic information is recombined through meiosis and transmitted to the offspring. Thus, understanding how the genome is organized and regulated in the nuclear space during the formation of germ cells is essential to comprehend the bases of fertility and its impact on genetic diversity. [...]

2020  
7.
1 p, 2.4 MB CRISPR technology and its application in cancer / Fagoaga Eugui, Maider ; Dunach, Mireia, dir. (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Universitat Autònoma de Barcelona. Facultat de Biociències
CRISPR is a revolutionary genome-editing technology derived from the adaptive immune system of prokaryotes, which integrate short fragments of foreign nucleic acids in their genome in a specific manner and this serves as a vaccination card or cellular memory of past invaders. [...]
2019-05-31
Grau en Bioquímica [814]  
8.
9 p, 446.0 KB Comparació de genomes de cèl·lules Eucariota / González Gómez, Héctor ; Gonzàlez, Jordi, dir. (Universitat Autònoma de Barcelona. Departament de Ciències de la Computació) ; Universitat Autònoma de Barcelona. Escola d'Enginyeria
Les similituds que es poden trobar entre els genomes de dues espècies ens permet obtenir molta informació de l'evolució d'aquests. Aquesta informació afavoreix el descobriment de gens que conserven les mateixes funcionalitats entre diferents espècies. [...]
The similities that can be found between the genomes of two species allow us to obtain a lot of information of the evolution of these. This information favours the finding of genes that preserve the same functionalities between different species. [...]
Las similitudes que se pueden encontrar entre los genomas de dos especies nos permite obtener mucha información de la evolución de los mismos. Esta información favorece el descubrimiento de genes que conservan las mismas funcionalidades entre diferentes especies. [...]

2016-06-29
Enginyeria Informàtica [958]  
9.
1 p, 1.1 MB Discovering CRISPR/Cas9 / Prieto Pascual, Cristina ; Hernández Viedma, Gonzalo, dir. (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Universitat Autònoma de Barcelona. Facultat de Biociències
2016
Grau en Genètica [833]  
10.
1 p, 978.9 KB Predicting human intelligence. Is it a near future? / Casas Cascante, Clara ; Gutiérrez García, José Manuel, dir. (Universitat Autònoma de Barcelona. Departament de Filosofia) ; Universitat Autònoma de Barcelona. Facultat de Biociències
2016
Grau en Biologia [812]  

Documentos de investigación : Encontrados 16 registros   1 - 10siguiente  ir al registro:
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