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Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex lipoprotein(a) KIV-2 VNTR.

Genome medicine - 8 Oct 2024

Amstler Stephan, Streiter Gertraud, Pfurtscheller Cathrin, Forer Lukas, Di Maio Silvia, Weissensteiner Hansi, Paulweber Bernhard, Schönherr Sebastian, Kronenberg Florian, Coassin Stefan

Abstract excerpt

BACKGROUND: Repetitive genome regions, such as variable number of tandem repeats (VNTR) or short tandem repeats (STR), are major constituents of the uncharted dark genome and evade conventional sequencing approaches. The protein-coding LPA kringle IV type-2 (KIV-2) VNTR (5.6 kb per unit, 1-40 units per allele) is a medically highly relevant example with a particularly intricate structure, multiple haplotypes,...

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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: 39380090
DOI: 10.1186/s13073-024-01391-8
PMCID: PMC11462820

Genes

LPA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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