Emmanouil Tsafantakis

Genetic mechanisms of 184 neuro-related proteins in human plasma

The paper identifies genetic regulators of 184 neuro-related proteins in human plasma and links them to disease traits and drug targets.

Whole genome sequencing analysis of the cardiometabolic proteome

The paper uses whole-genome sequencing to analyze the genetic architecture of 257 cardiometabolic protein biomarkers, identifying 131 sequence variant associations and constructing polygenic scores that explain up to 45% of protein variation.

The transferability of lipid loci across African, Asian and European cohorts

This study assesses the transferability of lipid loci across African, Asian, and European populations, finding high consistency but also population-specific variations.

Population-wide copy number variation calling using variant call format files from 6,898 individuals

This paper calls copy number variants from whole-genome sequencing data of 6,898 individuals using a regression tree-based method, identifying 1,320 CNVs and their potential clinical impact.

Very low depth whole genome sequencing in complex trait association studies

This study evaluates very low depth whole genome sequencing for complex trait association studies, showing it can efficiently discover association signals comparable to imputed GWAS chip designs.

Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits

The paper performs deep whole genome sequencing on 1,457 individuals to investigate rare variant contributions to cardiometabolic traits, identifying new regulatory variants and gene-trait associations.