Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk.

doi:10.1186/s12920-024-02024-0

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Article

Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk.

BMC medical genomics - 24 Oct 2024

Behera Sairam, Belyeu Jonathan R, Chen Xiao, Paulin Luis F, Nguyen Ngoc Quynh H, Newman Emma, Mahmoud Medhat, Menon Vipin K, Qi Qibin, Joshi Parag, Marcovina Santica, Rossi Massimiliano, Roller Eric, Han James, Onuchic Vitor, Avery Christy L, Ballantyne Christie M, Rodriguez Carlos J, Kaplan Robert C, Muzny Donna M, Metcalf Ginger A, Gibbs Richard A, Yu Bing, Boerwinkle Eric, Eberle Michael A, Sedlazeck Fritz J

Abstract excerpt

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,...

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PMID: 39449055
DOI: 10.1186/s12920-024-02024-0
PMCID: PMC11515395

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