The complete sequence of a human Y chromosome-Reference-Cited by-同舟云学术

The complete sequence of a human Y chromosome

Published:2022-12-01 Issue: Volume: Page:
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Rhie Arang^ORCID,Nurk Sergey,Cechova Monika^ORCID,Hoyt Savannah J.^ORCID,Taylor Dylan J.^ORCID,Altemose Nicolas^ORCID,Hook Paul W.^ORCID,Koren Sergey^ORCID,Rautiainen Mikko,Alexandrov Ivan A.^ORCID,Allen Jamie^ORCID,Asri Mobin^ORCID,Bzikadze Andrey V.,Chen Nae-Chyun^ORCID,Chin Chen-Shan^ORCID,Diekhans Mark^ORCID,Flicek Paul^ORCID,Formenti Giulio^ORCID,Fungtammasan Arkarachai^ORCID,Giron Carlos Garcia^ORCID,Garrison Erik^ORCID,Gershman Ariel^ORCID,Gerton Jennifer^ORCID,Grady Patrick G.S.^ORCID,Guarracino Andrea^ORCID,Haggerty Leanne^ORCID,Halabian Reza^ORCID,Hansen Nancy F.^ORCID,Harris Robert^ORCID,Hartley Gabrielle A.^ORCID,Harvey William T.^ORCID,Haukness Marina^ORCID,Heinz Jakob^ORCID,Hourlier Thibaut^ORCID,Hubley Robert M.^ORCID,Hunt Sarah E.^ORCID,Hwang Stephen^ORCID,Jain Miten^ORCID,Kesharwani Rupesh K.^ORCID,Lewis Alexandra P.^ORCID,Li Heng^ORCID,Logsdon Glennis A.^ORCID,Lucas Julian K.^ORCID,Makalowski Wojciech^ORCID,Markovic Christopher,Martin Fergal J.^ORCID,Mc Cartney Ann M.^ORCID,McCoy Rajiv C.^ORCID,McDaniel Jennifer^ORCID,McNulty Brandy M.,Medvedev Paul^ORCID,Mikheenko Alla^ORCID,Munson Katherine M.^ORCID,Murphy Terence D.^ORCID,Olsen Hugh E.,Olson Nathan D.^ORCID,Paulin Luis F.^ORCID,Porubsky David^ORCID,Potapova Tamara^ORCID,Ryabov Fedor^ORCID,Salzberg Steven L.^ORCID,Sauria Michael E.G.^ORCID,Sedlazeck Fritz J.^ORCID,Shafin Kishwar^ORCID,Shepelev Valery A.,Shumate Alaina^ORCID,Storer Jessica M.^ORCID,Surapaneni Likhitha^ORCID,Taravella Oill Angela M.^ORCID,Thibaud-Nissen Françoise^ORCID,Timp Winston^ORCID,Tomaszkiewicz Marta^ORCID,Vollger Mitchell R.^ORCID,Walenz Brian P.,Watwood Allison C.^ORCID,Weissensteiner Matthias H.^ORCID,Wenger Aaron M.^ORCID,Wilson Melissa A.^ORCID,Zarate Samantha^ORCID,Zhu Yiming,Zook Justin M.^ORCID,Eichler Evan E.^ORCID,O’Neill Rachel^ORCID,Schatz Michael C.^ORCID,Miga Karen H.^ORCID,Makova Kateryna D.^ORCID,Phillippy Adam M.^ORCID

Abstract

AbstractThe human Y chromosome has been notoriously difficult to sequence and assemble because of its complex repeat structure including 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, revealing the complete ampliconic structures ofTSPY, DAZ, andRBMY; 42 additional protein-coding genes, mostly from theTSPYgene family; and an alternating pattern of human satellite 1 and 3 blocks in the heterochromatic Yq12 region. We have combined T2T-Y with a prior 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.

Publisher

Cold Spring Harbor Laboratory

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