A pan-genome approach to decipher variants in the highly complex tandem repeat of LPA
Chin, C.-S.; Behera, S.; Metcalf, G.; Gibbs, R. A.; Boerwinkle, E.; Sedlazeck, F. J.
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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.
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