Back to search

Article

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

2024-03-05

Abstract excerpt

<h4>Background</h4> 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 haplot...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
80418c8f-4338-5031-abc6-3113aa4d8b51
DOI
10.1101/2024.03.01.582741
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex Lipoprotein(a) KIV-2 VNTRDOI 10.1101/2024.03.01.582741
Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex lipoprotein(a) KIV-2 VNTR.Semantic proximity
Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease riskSemantic proximity
Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk.Semantic proximity
A comprehensive map of single-base polymorphisms in the hypervariable LPA kringle IV type 2 copy number variation regionSemantic proximity
KILDA: identifying KIV-2 repeats from kmersSemantic proximity
A novel method for predicting Lp(a) levels from routine outpatient genomic testing identifies those at risk of cardiovascular disease across a diverse cohortSemantic proximity
Resolving intra-repeat variation in medically relevant VNTRs from short-read sequencing data using the cardiovascular risk gene LPA as a model.Semantic proximity
A pan-genome approach to decipher variants in the highly complex tandem repeat of <i>LPA</i>Semantic proximity
High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation.Semantic proximity
Investigation of a nonsense mutation located in the complex KIV-2 copy number variation region of apolipoprotein(a) in 10,910 individuals.Semantic proximity
LPA Kringle IV Type-2 Genetic Variants Are Associated With Apolipoprotein (a) Size, Hypertension, and Nonfasting Glucose Levels.Semantic proximity
Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestriesSemantic proximity
Select a neighboring publication to make it the new centre.