Article

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

2023-04-27

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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Literature Corpus work: 179eae96-cfc3-53bb-9d97-15c6c11c8afc
DOI: 10.1101/2023.04.24.538128

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