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Comparative analysis of fully sequenced Y chromosomes reveals genomic insights.

CWSF · 2026 Health & Wellness

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Overview

The human Y chromosome is one of the least understood parts of the human genome, mainly because it is very repetitive, making it difficult to sequence accurately. With the release of new human and primate genomes based on T2T (Telomere-to-Telomere) sequencing technology, clearer resolution of these regions is now possible. This project used supercomputing resources and bioinformatics tools to analyze fully sequenced T2T genomes across multiple species, focusing on repetitive element distribution in the Y chromosome. Results revealed that the second half of the human Y chromosome, which is considered genetically inactive, contains a high concentration of non-coding genes. Further analysis showed a tandem duplication event involving two repetitive elements (AluY and HSATII). 602 out of 604 non-coding genes in this region contain these elements. This pattern is unique to the human Y chromosome, suggesting that repetitive elements may play a larger role than previously recognized in human genetic evolution.

Awards (1)

  • Selected for CWSF 2026

Competition history

  • CWSF 2026 Health & Wellness

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