Assembly of 43 human Y chromosomes reveals extensive complexity and variation.

doi:10.1038/s41586-023-06425-6

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Article

Assembly of 43 human Y chromosomes reveals extensive complexity and variation.

Nature - 1 Sept 2023

Hallast Pille, Ebert Peter, Loftus Mark, Yilmaz Feyza, Audano Peter A, Logsdon Glennis A, Bonder Marc Jan, Zhou Weichen, Höps Wolfram, Kim Kwondo, Li Chong, Hoyt Savannah J, Dishuck Philip C, Porubsky David, Tsetsos Fotios, Kwon Jee Young, Zhu Qihui, Munson Katherine M, Hasenfeld Patrick, Harvey William T, Lewis Alexandra P, Kordosky Jennifer, Hoekzema Kendra, O'Neill Rachel J, Korbel Jan O, Tyler-Smith Chris, Eichler Evan E, Shi Xinghua, Beck Christine R, Marschall Tobias, Konkel Miriam K, Lee Charles

Abstract excerpt

The prevalence of highly repetitive sequences within the human Y chromosome has prevented its complete assembly to date1 and led to its systematic omission from genomic analyses. Here we present de novo assemblies of 43 Y chromosomes spanning 182,900 years of human evolution and report considerable diversity in size and structure. Half of the male-specific euchromatic region is subject to large inversions with a...

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Identifiers

PMID: 37612510
DOI: 10.1038/s41586-023-06425-6
PMCID: PMC10726138

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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