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Article

Resolving intra-repeat variation in medically relevant VNTRs from short-read sequencing data using the cardiovascular risk gene LPA as a model.

Genome biology - 26 Jun 2024

Di Maio Silvia, Zöscher Peter, Weissensteiner Hansi, Forer Lukas, Schachtl-Riess Johanna F, Amstler Stephan, Streiter Gertraud, Pfurtscheller Cathrin, Paulweber Bernhard, Kronenberg Florian, Coassin Stefan, Schönherr Sebastian

Abstract excerpt

BACKGROUND: Variable number tandem repeats (VNTRs) are highly polymorphic DNA regions harboring many potentially disease-causing variants. However, VNTRs often appear unresolved ("dark") in variation databases due to their repetitive nature. One particularly complex and medically relevant VNTR is the KIV-2 VNTR located in the cardiovascular disease gene LPA which encompasses up to 70% of the coding sequence....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38926899
DOI: 10.1186/s13059-024-03316-5
PMCID: PMC11201333

Provenance

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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