Genome sequence analysis3/10/2023 The GRCh38 reference assembly contains 151 mega–base pairs (Mbp) of unknown sequence distributed throughout the genome, including pericentromeric and subtelomeric regions, recent segmental duplications, ampliconic gene arrays, and ribosomal DNA (rDNA) arrays, all of which are necessary for fundamental cellular processes ( Fig. As a result, several GRC assembly gaps are unsolvable because of incompatible structural polymorphisms on their flanks, and many other repetitive and polymorphic regions were left unfinished or incorrectly assembled ( 5). However, limitations of BAC cloning led to an underrepresentation of repetitive sequences, and the opportunistic assembly of BACs derived from multiple individuals resulted in a mosaic of haplotypes. Unlike the competing Celera effort ( 3) and most modern sequencing projects based on “shotgun” sequence assembly ( 4), the GRC assembly was constructed from sequenced bacterial artificial chromosomes (BACs) that were ordered and oriented along the human genome by means of radiation hybrid, genetic linkage, and fingerprint maps. This reference traces its origin to the publicly funded Human Genome Project ( 2) and has been continually improved over the past two decades. The current human reference genome was released by the Genome Reference Consortium (GRC) in 2013 and most recently patched in 2019 (GRCh38.p13) ( 1). Phillippy +97 authors +95 authors +90 authors fewer Authors Info & Affiliations Young, Samantha Zarate, Urvashi Surti, Rajiv C. Sullivan, Françoise Thibaud-Nissen, James Torrance, Justin Wagner, Brian P. Shew, Alaina Shumate, Ying Sims, Arian F. Pevzner, David Porubsky, Tamara Potapova, Evgeny I. Olson, Benedict Paten, Paul Peluso, Pavel A. Jarvis, Peter Kerpedjiev, Melanie Kirsche, Mikhail Kolmogorov, Jonas Korlach, Milinn Kremitzki, Heng Li, Valerie V. Hunkapiller, Chirag Jain, Miten Jain, Erich D. Hartley, Marina Haukness, Kerstin Howe, Michael W. Fulton, Arkarachai Fungtammasan, Erik Garrison, Patrick G. Dishuck, Richard Durbin, Tatiana Dvorkina, Ian T. Caldas, Nae-Chyun Chen, Haoyu Cheng, Chen-Shan Chin, William Chow, Leonardo G. Antonarakis, Matthew Borchers, Gerard G. Vollger, Nicolas Altemose, Lev Uralsky, , Ariel Gershman, Sergey Aganezov, Savannah J. Sergey Nurk, Sergey Koren, , Arang Rhie, Mikko Rautiainen, , Andrey V.
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