The complete sequence of a human Y chromosome
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14330%2F23%3A00133332" target="_blank" >RIV/00216224:14330/23:00133332 - isvavai.cz</a>
Result on the web
<a href="http://dx.doi.org/10.1038/s41586-023-06457-y" target="_blank" >http://dx.doi.org/10.1038/s41586-023-06457-y</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/s41586-023-06457-y" target="_blank" >10.1038/s41586-023-06457-y</a>
Alternative languages
Result language
angličtina
Original language name
The complete sequence of a human Y chromosome
Original language description
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 duplications1-3. 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 finished4,5. 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 genome4 and mapped available population variation, clinical variants and functional genomics data to produce a complete and comprehensive reference sequence for all 24 human chromosomes.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10201 - Computer sciences, information science, bioinformathics (hardware development to be 2.2, social aspect to be 5.8)
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Nature
ISSN
0028-0836
e-ISSN
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Volume of the periodical
621
Issue of the periodical within the volume
7978
Country of publishing house
US - UNITED STATES
Number of pages
11
Pages from-to
344-354
UT code for WoS article
001074472200015
EID of the result in the Scopus database
2-s2.0-85168596669