ArticleBMC medical genomics2024
Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk.
Article in BMC medical genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- Expert consensus on Lipoprotein(a) in the Gulf countries: Navigating cardiovascular risk and therapeutic advances.Atherosclerosis plus · 2026Article
- Article
- Genome sequencing identifies monogenic causes in adults with metabolic diseases.Journal of the Endocrine Society · 2026Article
- Recent advances in understanding the spectrum of genetic determinants of lipoprotein(a) levels.Current opinion in lipidology · 2026Review
- GREGoR: accelerating genomics for rare diseases.Nature · 2025Article
- Novel Method for Predicting Lp(a) From Genomic Testing Identifies ASCVD Risk Across a Diverse Cohort.JACC. Basic to translational science · 2025Article
- Cardiovascular Implications of Lipoprotein(a) and its Genetic Variants: A Critical Review From the Middle East.JACC. Asia · 2025Review
- Comprehensive genome analysis and variant detection at scale using DRAGEN.Nature biotechnology · 2025Article
- KILDA: identifying KIV-2 repeats from kmers.NAR genomics and bioinformatics · 2025Article
- A Hitchhiker's Guide to long-read genomic analysis.Genome research · 2025Review
- GREGoR: Accelerating Genomics for Rare Diseases.ArXiv · 2024Article
- Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex lipoprotein(a) KIV-2 VNTR.Genome medicine · 2024Article
- Closing the gap: Solving complex medically relevant genes at scale.medRxiv : the preprint server for health sciences · 2024Article
- Comprehensive and accurate genome analysis at scale using DRAGEN accelerated algorithms.bioRxiv : the preprint server for biology · 2024Article
- Advances in the discovery and analyses of human tandem repeats.Emerging topics in life sciences · 2023Review
- Assessment of Apolipoprotein(a) Isoform Size Using Phenotypic and Genotypic Methods.International journal of molecular sciences · 2023Review
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26 authors.
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No grant is acknowledged in the PubMed record.
Abstract
The abundance of Lp(a) protein holds significant implications for the risk of cardiovascular disease (CVD), which is directly impacted by the copy number (CN) of KIV-2, a 5.5 kbp sub-region. KIV-2 is highly polymorphic in the population and accurate analysis is challenging. In this study, we present the DRAGEN KIV-2 CN caller, which utilizes short reads. Data across 166 WGS show that the caller has high accuracy, compared to optical mapping and can further phase approximately 50% of the samples. We compared KIV-2 CN numbers to 24 previously postulated KIV-2 relevant SNVs, revealing that many are ineffective predictors of KIV-2 copy number. Population studies, including USA-based cohorts, showed distinct KIV-2 CN, distributions for European-, African-, and Hispanic-American populations and further underscored the limitations of SNV predictors. We demonstrate that the CN estimates correlate significantly with the available Lp(a) protein levels and that phasing is highly important.
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