Article
A draft human pangenome reference.
Nature - 1 May 2023
Liao Wen-Wei, Asri Mobin, Ebler Jana, Doerr Daniel, Haukness Marina, Hickey Glenn, Lu Shuangjia, Lucas Julian K, Monlong Jean, Abel Haley J, Buonaiuto Silvia, Chang Xian H, Cheng Haoyu, Chu Justin, Colonna Vincenza, Eizenga Jordan M, Feng Xiaowen, Fischer Christian, Fulton Robert S, Garg Shilpa, Groza Cristian, Guarracino Andrea, Harvey William T, Heumos Simon, Howe Kerstin, Jain Miten, Lu Tsung-Yu, Markello Charles, Martin Fergal J, Mitchell Matthew W, Munson Katherine M, Mwaniki Moses Njagi, Novak Adam M, Olsen Hugh E, Pesout Trevor, Porubsky David, Prins Pjotr, Sibbesen Jonas A, Sirén Jouni, Tomlinson Chad, Villani Flavia, Vollger Mitchell R, Antonacci-Fulton Lucinda L, Baid Gunjan, Baker Carl A, Belyaeva Anastasiya, Billis Konstantinos, Carroll Andrew, Chang Pi-Chuan, Cody Sarah, Cook Daniel E, Cook-Deegan Robert M, Cornejo Omar E, Diekhans Mark, Ebert Peter, Fairley Susan, Fedrigo Olivier, Felsenfeld Adam L, Formenti Giulio, Frankish Adam, Gao Yan, Garrison Nanibaa' A, Giron Carlos Garcia, Green Richard E, Haggerty Leanne, Hoekzema Kendra, Hourlier Thibaut, Ji Hanlee P, Kenny Eimear E, Koenig Barbara A, Kolesnikov Alexey, Korbel Jan O, Kordosky Jennifer, Koren Sergey, Lee HoJoon, Lewis Alexandra P, Magalhães Hugo, Marco-Sola Santiago, Marijon Pierre, McCartney Ann, McDaniel Jennifer, Mountcastle Jacquelyn, Nattestad Maria, Nurk Sergey, Olson Nathan D, Popejoy Alice B, Puiu Daniela, Rautiainen Mikko, Regier Allison A, Rhie Arang, Sacco Samuel, Sanders Ashley D, Schneider Valerie A, Schultz Baergen I, Shafin Kishwar, Smith Michael W, Sofia Heidi J, Abou Tayoun Ahmad N, Thibaud-Nissen Françoise, Tricomi Francesca Floriana, Wagner Justin, Walenz Brian, Wood Jonathan M D, Zimin Aleksey V, Bourque Guillaume, Chaisson Mark J P, Flicek Paul, Phillippy Adam M, Zook Justin M, Eichler Evan E, Haussler David, Wang Ting, Jarvis Erich D, Miga Karen H, Garrison Erik, Marschall Tobias, Hall Ira M, Li Heng, Paten Benedict
Abstract excerpt
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...
