Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk
Sairam Behera, Jonathan R. Belyeu, Xiao Chen, Luis F. Paulin, Ngoc Quynh Nguyen, Emma Newman, Medhat Mahmoud, Vipin K. Menon, Qibin Qi, Parag H. Joshi, Santica M. Marcovina, Massimiliano Rossi, Eric E. Roller, James Han, Vitor Onuchic, , Fritz Joachim Sedlazeck
The paper introduces a CN caller for KIV-2 repeats using short reads, showing high accuracy and demonstrating its correlation with Lp(a) levels and population-specific CN distributions.
BMC Medical Genomics · Oct 24, 2024Peer-reviewedGenomics