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Articles 1 registres trobats  
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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  

Documents de recerca 1 registres trobats  
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  

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