Santica M. Marcovina

Proteomic and Kinetic Analyses Reveal Discordant Apolipoprotein Turnover and Support a Revised Model of Human Lipoprotein(a) Metabolism

The paper uses proteomic and kinetic analyses to show that APO(a) and APOB in Lp(a) particles have different turnover rates, suggesting a revised model of Lp(a) metabolism.

Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk

The paper introduces a CN caller for KIV-2 repeats using short reads, showing high accuracy and demonstrating its correlation with Lp(a) levels and population-specific CN distributions.

Summary statistics from large-scale gene-environment interaction studies for re-analysis and meta-analysis

The paper introduces two tools, REGEM and METAGEM, to analyze gene-environment interaction summary statistics from GWIS studies, enabling efficient re-analysis and meta-analysis.

The power of TOPMed imputation for the discovery of Latino enriched rare variants associated with type 2 diabetes

The paper demonstrates that TOPMed imputation improves the identification of rare variants associated with type 2 diabetes in Latino populations, leading to novel associations and better polygenic scores.

Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes

This study identifies causal variants, cells, genes, and drug targets for type 1 diabetes using large-scale genetic and functional genomic analyses.