Identification of Allele-Specific Kiv-2 Repeats and Impact on Lp(a) Measurements for Cardiovascular Disease Risk

Citation

Behera, Sairam; Belyeu, Jonathan R.; Chen, Xiaoyu; Paulin, Luis F.; Nguyen, Uyen-Sa D. T.; Newman, Emma; Mahmoud, Medhat; Menon, Vipin K; Qi, Qibin; & Joshi, Harish, et al. (Preprint). Identification of Allele-Specific Kiv-2 Repeats and Impact on Lp(a) Measurements for Cardiovascular Disease Risk. bioRxiv. PMCID: PMC10168217

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

URL

http://dx.doi.org/10.1101/2023.04.24.538128

Reference Type

Journal Article

Year Published

Preprint

Journal Title

bioRxiv

Author(s)

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

Article Type

Regular

PMCID

PMC10168217

Data Set/Study

Atherosclerosis Risk in Communities (ARIC) Study
Hispanic Community Health Study/Study of Latinos (HCHS/SOL)

Continent/Country

United States of America

State

Nonspecific

ORCiD

Avery - 0000-0002-1044-8162