{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Nurk S"],"funding":["Intramural NIH HHS","Swiss National Science Foundation","European Research Council","NIA NIH HHS","NIDDK NIH HHS","Howard Hughes Medical Institute","NIMH NIH HHS","NHGRI NIH HHS","NCI NIH HHS","Wellcome Trust","NIGMS NIH HHS"],"pagination":["44-53"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9186530"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["376(6588)"],"pubmed_abstract":["Since its initial release in 2000, the human reference genome has covered only the euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. Addressing the remaining 8% of the genome, the Telomere-to-Telomere (T2T) Consortium presents a complete 3.055 billion-base pair sequence of a human genome, T2T-CHM13, that includes gapless assemblies for all chromosomes except Y, corrects errors in the prior references, and introduces nearly 200 million base pairs of sequence containing 1956 gene predictions, 99 of which are predicted to be protein coding. The completed regions include all centromeric satellite arrays, recent segmental duplications, and the short arms of all five acrocentric chromosomes, unlocking these complex regions of the genome to variational and "],"journal":["Science (New York, N.Y.)"],"pubmed_title":["The complete sequence of a human genome."],"pmcid":["PMC9186530"],"funding_grant_id":["F31 HG011205","F32 GM134558","T32 GM007445","U24 HG009081","U24 HG007234","R01 HG002385","U24 HG006620","U01 HG010961","ZIA HG200398","R24 DK106766","R01 GM129263","U41 HG010972","R01 HG009190","DP2 MH119424","R01 HG002939","R01 GM124041","R21 CA240199","U24 HG010263","R01 AG054712","R35 GM133747","R01 HG010485","U41 HG007234","R01 HG010040","249968","R01 HG011274","207492/Z/17/Z","R01 HG010169","R01 HG006677","U01 HG010971","U01 CA253481","R01 GM123312","Z99 HG999999","UM1 HG008898","R21 CA238758","R35 GM130151"],"pubmed_authors":["Alonge M","Streets A","Howe K","Jain C","Logsdon GA","Myers EW","Yan SM","Dvorkina T","Dishuck PC","Durbin R","Hall IM","Kirsche M","Jain M","Altemose N","Fungtammasan A","Hunkapiller MW","Korlach J","Kremitzki M","Miller DE","Potapova T","Sedlazeck FJ","Dennis MY","Sims Y","Young AC","Schatz MC","Rhie A","Walenz BP","Thibaud-Nissen F","Diekhans M","Surti U","Nurk S","Chin CS","Koren S","Chen NC","Cheng H","Zarate S","Miga KH","Chow W","Garrison E","Uralsky L","Olson ND","Caldas GV","Antonarakis SE","Fiddes IT","Phillippy AM","Mikheenko A","Zook JM","Xiao C","Kerpedjiev P","Timp W","Pevzner PA","Sovic I","Paten B","O'Neill RJ","Brooks SY","Alexandrov IA","McCoy RC","McDaniel J","Li H","Jarvis ED","Shew CJ","Gershman A","Sullivan BA","Rautiainen M","Rogaev EI","Maduro VV","Storer JM","Wagner J","Borchers M","Vollger MR","Shafin K","Bouffard GG","Hoyt SJ","Grady PGS","Schneider VA","Torrance J","Formenti G","Rosenfeld JA","Bzikadze AV","Haukness M","Fulton RS","Hansen NF","Peluso P","Wood JMD","Salzberg SL","Mullikin JC","Wenger A","de Lima LG","Porubsky D","Smit AFA","Kolmogorov M","Graves-Lindsay TA","Soto DC","Aganezov S","Marschall T","Hartley GA","Shumate A","Eichler EE","McCartney AM","Gerton JL"],"additional_accession":[]},"is_claimable":false,"name":"The complete sequence of a human genome.","description":"Since its initial release in 2000, the human reference genome has covered only the euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. Addressing the remaining 8% of the genome, the Telomere-to-Telomere (T2T) Consortium presents a complete 3.055 billion-base pair sequence of a human genome, T2T-CHM13, that includes gapless assemblies for all chromosomes except Y, corrects errors in the prior references, and introduces nearly 200 million base pairs of sequence containing 1956 gene predictions, 99 of which are predicted to be protein coding. The completed regions include all centromeric satellite arrays, recent segmental duplications, and the short arms of all five acrocentric chromosomes, unlocking these complex regions of the genome to variational and ","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Apr","modification":"2026-05-27T20:30:41.465Z","creation":"2025-02-19T02:44:06.729Z"},"accession":"S-EPMC9186530","cross_references":{"pubmed":["35357919"],"doi":["10.1126/science.abj6987"]}}