Sairam Behera

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.

Sep 14, 2023 | nature.com | Mikhail Kolmogorov |Kimberley Billingsley |Mira Mastoras |Melissa Meredith |Ramita Dewan |Kensuke Daida | +13 more

AbstractLong-read sequencing technologies substantially overcome the limitations of short-reads but have not been considered as a feasible replacement for population-scale projects, being a combination of too expensive, not scalable enough or too error-prone. Here we develop an efficient and scalable wet lab and computational protocol, Napu, for Oxford Nanopore Technologies long-read sequencing that seeks to address those limitations.