Jonathan Belyeu

2 months ago | digitalcommons.library.tmc.edu | Sairam Behera |Jonathan Belyeu |Xiao Chen |Luis F. Paulin

KeywordsHumans, Cardiovascular Diseases, Alleles, Lipoprotein(a), DNA Copy Number Variations, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, LPA, Copy number variation, Cardiovascular disease, Next Generation Sequencing, IlluminaAbstractThe 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.

Aug 20, 2024 | biorxiv.org | Christopher Saunders |James Holt |Daniel Baker |Jonathan Belyeu

AbstractMotivation Structural variants (SVs) play an important role in evolutionary and functional genomics but are challenging to characterize. High-accuracy, long-read sequencing can substantially improve SV characterization when coupled with effective calling methods. While state-of the-art long-read SV callers are highly accurate, further improvements are achievable by systematically modeling local haplotypes during SV discovery and genotyping.