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 (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)

Data:	2023
Resum:	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. These assemblies cover more than 99% of the expected sequence in each genome and are more than 99% accurate at the structural and base pair levels. Based on alignments of the assemblies, we generate a draft pangenome that captures known variants and haplotypes and reveals new alleles at structurally complex loci. We also add 119 million base pairs of euchromatic polymorphic sequences and 1,115 gene duplications relative to the existing reference GRCh38. Roughly 90 million of the additional base pairs are derived from structural variation. Using our draft pangenome to analyse short-read data reduced small variant discovery errors by 34% and increased the number of structural variants detected per haplotype by 104% compared with GRCh38-based workflows, which enabled the typing of the vast majority of structural variant alleles per sample.
Ajuts:	Ministerio de Ciencia e Innovación IJC2020-045916-I
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Genome informatics ; Genomics ; Genome assembly algorithms ; Haplotypes
Publicat a:	Nature, Vol. 617 (May 2023) , p. 312-324, ISSN 1476-4687

DOI: 10.1038/s41586-023-05896-x
PMID: 37165242

63 p, 25.7 MB

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