A draft human pangenome reference.

WW, Liao; M, Asri; J, Ebler; D, Doerr; M, Haukness; G, Hickey; S, Lu; JK, Lucas; J, Monlong; HJ, Abel; S, Buonaiuto; XH, Chang; H, Cheng; J, Chu; V, Colonna; JM, Eizenga; X, Feng; C, Fischer; RS, Fulton; S, Garg; C, Groza; A, Guarracino; WT, Harvey; S, Heumos; K, Howe; M, Jain; TY, Lu; C, Markello; FJ, Martin; MW, Mitchell; KM, Munson; MN, Mwaniki; AM, Novak; HE, Olsen; T, Pesout; D, Porubsky; P, Prins; JA, Sibbesen; J, Sirén; C, Tomlinson; F, Villani; MR, Vollger; LL, Antonacci-Fulton; G, Baid; CA, Baker; A, Belyaeva; K, Billis; A, Carroll; PC, Chang; S, Cody; DE, Cook; RM, Cook-Deegan; OE, Cornejo; M, Diekhans; P, Ebert; S, Fairley; O, Fedrigo; AL, Felsenfeld; G, Formenti; A, Frankish; Y, Gao; NA, Garrison; CG, Giron; RE, Green; L, Haggerty; K, Hoekzema; T, Hourlier; HP, Ji; EE, Kenny; BA, Koenig; A, Kolesnikov; JO, Korbel; J, Kordosky; S, Koren; H, Lee; AP, Lewis; H, Magalhães; S, Marco-Sola; P, Marijon; A, McCartney; J, McDaniel; J, Mountcastle; M, Nattestad; S, Nurk; ND, Olson; AB, Popejoy; D, Puiu; M, Rautiainen; AA, Regier; A, Rhie; S, Sacco; AD, Sanders; VA, Schneider; BI, Schultz; K, Shafin; MW, Smith; HJ, Sofia; Tayoun AN, Abou; F, Thibaud-Nissen; FF, Tricomi; J, Wagner; B, Walenz; JMD, Wood; AV, Zimin; G, Bourque; MJP, Chaisson; P, Flicek; AM, Phillippy; JM, Zook; EE, Eichler; D, Haussler; T, Wang; ED, Jarvis; KH, Miga; E, Garrison; T, Marschall; IM, Hall; H, Li; B, Paten

doi:10.1038/s41586-023-05896-x

Public

A draft human pangenome reference.

Shared by NobleBlocks on May 10, 2023 • 12:00 AM UTC

Authors:

Liao WW

Asri M

Ebler J

Abstract

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...

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