A draft human pangenome reference

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 tha...

Descripción completa

Detalles Bibliográficos
Autores: Liao, Wen-Wei|||0000-0001-8183-213X, Asri, Mobin, Ebler, Jana, Doerr, Daniel|||0000-0002-3720-6227, Haukness, Marina|||0000-0001-9991-8089, Hickey, Glenn, Lu, Shuangjia|||0000-0001-8571-6902, Lucas, Julian K., Monlong, Jean, Abel, Haley J., Buonaiuto, Silvia, Chang, Xian H., Cheng, Haoyu|||0000-0002-9209-5793, Chu, Justin, Colonna, Vincenza|||0000-0002-3966-0474, Eizenga, Jordan|||0000-0001-8345-8356, Feng, Xiaowen, Fischer, Christian, Fulton, Robert S., Garg, Shilpa, Groza, Cristian, Guarracino, Andrea|||0000-0001-9744-131X, Harvey, William T., Heumos, Simon, Howe, Kerstin|||0000-0003-2237-513X, Jain, Miten|||0000-0002-4571-3982, Lu, Tsung-Yu|||0000-0001-7110-3937, Markello, Charles, Martin, Fergal J.|||0000-0002-1672-050X, Mitchell, Matthew W.|||0000-0002-6947-0495, Munson, Katherine M.|||0000-0001-8413-6498, Mwaniki, Moses Njagi, Novak, Adam M.|||0000-0001-5828-047X, Olsen, Hugh E., Pesout, Trevor, Porubsky, David|||0000-0001-8414-8966, Prins, Pjotr|||0000-0002-8021-9162, Sibbesen, Jonas A., Sirén, Jouni|||0000-0001-5828-4139, Tomlinson, Chad|||0000-0001-9905-6159, Villani, Flavia|||0000-0003-3633-0610, Vollger, Mitchell R.|||0000-0002-8651-1615, Antonacci-Fulton, Lucinda L., Baid, Gunjan, Baker, Carl A., Belyaeva, Anastasiya, Billis, Konstantinos|||0000-0001-8568-4306, Carroll, Andrew, Chang, Pi-Chuan, Cody, Sarah, Cook, Daniel E., Cook-Deegan, Robert M., Cornejo, Omar E.|||0000-0003-4076-4227, Diekhans, Mark|||0000-0002-0430-0989, Ebert, Peter|||0000-0001-7441-532X, Fairley, Susan, Fedrigo, Olivier|||0000-0002-6450-7551, Felsenfeld, Adam L., Formenti, Giulio|||0000-0002-7554-5991, Frankish, Adam|||0000-0002-4333-628X, Gao, Yan, Garrison, Nanibaa' A.|||0000-0002-6228-3216, Giron, Carlos Garcia, Green, Richard E.|||0000-0003-0516-5827, Haggerty, Leanne, Hoekzema, Kendra, Hourlier, Thibaut|||0000-0003-4894-7773, Ji, Hanlee P.|||0000-0003-3772-3424, Kenny, Eimear E., Koenig, Barbara A., Kolesnikov, Alexey, Korbel, Jan O.|||0000-0002-2798-3794, Kordosky, Jennifer, Koren, Sergey|||0000-0002-1472-8962, Lee, HoJoon|||0000-0002-0973-9544, Lewis, Alexandra P., Magalhães, Hugo|||0000-0002-6807-1548, Marco-Sola, Santiago|||0000-0001-7951-3914, Marijon, Pierre, McCartney, Ann, McDaniel, Jennifer|||0000-0003-1987-0914, Mountcastle, Jacquelyn|||0000-0003-1078-4905, Nattestad, Maria, Nurk, Sergey, Olson, Nathan D.|||0000-0003-2585-3037, Popejoy, Alice B., Puiu, Daniela, Rautiainen, Mikko, Regier, Allison A., Rhie, Arang|||0000-0002-9809-8127, Sacco, Samuel, Sanders, Ashley D., Schneider, Valerie A., Schultz, Baergen I., Shafin, Kishwar|||0000-0001-5252-3434, Smith, Michael W., Sofia, Heidi J., Abou Tayoun, Ahmad, Thibaud-Nissen, Françoise|||0000-0003-4957-7807, Tricomi, Francesca Floriana|||0000-0002-6170-5499, Wagner, Justin, Walenz, Brian|||0000-0001-8431-1428, Wood, Jonathan|||0000-0002-7545-2162, Zimin, Aleksey V., Bourque, Guillaume|||0000-0002-3933-9656, Chaisson, Mark|||0000-0001-5395-1457, Flicek, Paul|||0000-0002-3897-7955, Phillippy, Adam M.|||0000-0003-2983-8934, Zook, Justin M.|||0000-0003-2309-8402, Eichler, Evan E.|||0000-0002-8246-4014, Haussler, David, Wang, Ting|||0000-0002-6800-242X, Jarvis, Erich|||0000-0001-8931-5049, Miga, Karen H.|||0000-0002-3670-4507, Garrison, Erik|||0000-0003-3821-631X, Marschall, Tobias|||0000-0002-9376-1030, Hall, Ira M.|||0000-0003-4442-6655, Li, Heng|||0000-0003-4874-2874, Paten, Benedict|||0000-0001-8863-3539
Tipo de recurso: artículo
Fecha de publicación:2023
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:285762
Acceso en línea:https://ddd.uab.cat/record/285762
https://dx.doi.org/urn:doi:10.1038/s41586-023-05896-x
Access Level:acceso abierto
Palabra clave:Genome informatics
Genomics
Genome assembly algorithms
Haplotypes
Descripción
Sumario: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.