bioRxivBioinformaticsPreprint
A pan-genome approach to decipher variants in the highly complex tandem repeat of LPA
Chen-Shan ChiniD, Sairam BeheraiD, Ginger MetcalfiD, Richard A. GibbsiD, Eric BoerwinkleiD, Fritz Joachim SedlazeckiD
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.
- organism: human
- assay: whole-genome sequencing
- research focus: variant calling
- approach: statistical model
- Citations
- 13
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