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Article

Analysis of clinically relevant large tandem repeats using nanopore sequencing.

Scientific reports - 4 Dec 2025

Madritsch Silvia, Horner David, Löwenstern Tamara, Brait Nadja, Arnold Vivienne, Wenzel Andrea, Weis Denisa, Hengstschläger Markus, Laccone Franco

Abstract excerpt

Variable number tandem repeats (VNTRs) remain among the most challenging regions of the human genome to characterize, due to their repetitive structure and high sequence variability. Short-read sequencing lacks the resolution to span these regions, and even long-read variant callers often fail to resolve true allelic variation due to alignment ambiguity and motif heterogeneity. We present a novel bioinformatics...

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Identifiers

PMID: 41345522
DOI: 10.1038/s41598-025-30441-3
PMCID: PMC12780063

Genes

MUC1
ACAN

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