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Comparative analysis of GRCh38 and Telomere-to-Telomere (T2T) Human Genome Assemblies Reveals Novel Insights into Telomere Architecture

2026-02-10

Abstract excerpt

<title>Abstract</title> <p>Accurate characterisation of human telomeres has been historically constrained by limitations in the GRCh38 reference genome, with thousands of missing regions, particularly at the chromosome termini. These gaps limit the ability to detect meaningful inter-individual variation in telomeric architecture. Recent completion of T2T-CHM13 assembly overcomes these limitations, providing unint...

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Literature Corpus work: ebcf7176-da9a-5710-8aca-081988589686
DOI: 10.21203/rs.3.rs-8814520/v1

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