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A pan-genome approach to decipher variants in the highly complex tandem repeat of LPA
Preprint
Chen-Shan Chin ,
Sairam Behera ,
Ginger A. Metcalf ,
Richard A. Gibbs ,
Eric Boerwinkle ,
Fritz J. Sedlazeck
June 09 2022
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Abstract
Lp(a) is an important factor in Coronary Heart disease risk, and its expression is correlated with the length of the LPA gene. The KIV-2 region of LPA consists of variable tandem repeats whose number is highly variable across individuals. Little is known about the inner diversity of the KIV-2 repeats themselves. Here we utilize a pan-genome graph approach across 47 haplotype resolved assemblies to identify unexpected variation across KIV-2.