@article {328696,
	title = {The complete sequence of a human Y chromosome.},
	journal = {Nature},
	year = {2023},
	month = {2023 Aug 23},
	abstract = {<p>The human Y chromosome has been notoriously difficult to sequence and assemble because of its complex repeat structure that includes long palindromes, tandem repeats and segmental duplications. As a result, more than half of the Y chromosome is missing from the GRCh38 reference sequence and it remains the last human chromosome to be finished. Here, the Telomere-to-Telomere (T2T) consortium presents the complete 62,460,029-base-pair sequence of a human Y chromosome from the HG002 genome (T2T-Y) that corrects multiple errors in GRCh38-Y and adds over 30 million base pairs of sequence to the reference, showing the complete ampliconic structures of gene families TSPY, DAZ and RBMY; 41 additional protein-coding genes, mostly from the TSPY family; and an alternating pattern of human satellite 1 and 3 blocks in the heterochromatic Yq12 region. We have combined T2T-Y with a previous assembly of the CHM13 genome and mapped available population variation, clinical variants and functional genomics data to produce a complete and comprehensive reference sequence for all 24 human chromosomes.</p>
},
	issn = {1476-4687},
	doi = {10.1038/s41586-023-06457-y},
	url = {https://www.nature.com/articles/s41586-023-06457-y},
	author = {Rhie, Arang and Nurk, Sergey and Cechova, Monika and Hoyt, Savannah J and Taylor, Dylan J and Altemose, Nicolas and Hook, Paul W and Koren, Sergey and Rautiainen, Mikko and Alexandrov, Ivan A and Allen, Jamie and Asri, Mobin and Bzikadze, Andrey V and Chen, Nae-Chyun and Chin, Chen-Shan and Diekhans, Mark and Flicek, Paul and Formenti, Giulio and Fungtammasan, Arkarachai and Garcia Giron, Carlos and Garrison, Erik and Gershman, Ariel and Gerton, Jennifer L and Grady, Patrick G S and Guarracino, Andrea and Haggerty, Leanne and Halabian, Reza and Hansen, Nancy F and Harris, Robert and Hartley, Gabrielle A and Harvey, William T and Haukness, Marina and Heinz, Jakob and Hourlier, Thibaut and Hubley, Robert M and Hunt, Sarah E and Hwang, Stephen and Jain, Miten and Kesharwani, Rupesh K and Lewis, Alexandra P and Li, Heng and Logsdon, Glennis A and Lucas, Julian K and Makalowski, Wojciech and Markovic, Christopher and Martin, Fergal J and Mc Cartney, Ann M and McCoy, Rajiv C and McDaniel, Jennifer and McNulty, Brandy M and Medvedev, Paul and Mikheenko, Alla and Munson, Katherine M and Murphy, Terence D and Olsen, Hugh E and Olson, Nathan D and Paulin, Luis F and Porubsky, David and Potapova, Tamara and Ryabov, Fedor and Salzberg, Steven L and Sauria, Michael E G and Sedlazeck, Fritz J and Shafin, Kishwar and Shepelev, Valery A and Shumate, Alaina and Storer, Jessica M and Surapaneni, Likhitha and Taravella Oill, Angela M and Thibaud-Nissen, Fran{\c c}oise and Timp, Winston and Tomaszkiewicz, Marta and Vollger, Mitchell R and Walenz, Brian P and Watwood, Allison C and Weissensteiner, Matthias H and Wenger, Aaron M and Wilson, Melissa A and Zarate, Samantha and Zhu, Yiming and Zook, Justin M and Eichler, Evan E and O{\textquoteright}Neill, Rachel J and Schatz, Michael C and Miga, Karen H and Makova, Kateryna D and Phillippy, Adam M}
}
