Aliki‐Eleni Farmaki

This study identifies 12,111 SNPs associated with height from 5.4 million individuals, explaining most common SNP-based heritability and showing ancestry-specific prediction accuracy.

This study investigates the pleiotropic effects of SERPINA1 Z allele heterozygosity on various phenotypes using UK Biobank data, finding associations with height, gall bladder disease, heart disease, and lung function.

This paper uses Mendelian randomization to examine causal relationships between glycaemia, cognitive function, brain structure, and dementia in UK Biobank data, finding little evidence of causal associations.

This study identifies 15 common and 9 low-frequency protein-coding variants associated with body fat distribution, implicating novel genes related to lipid homeostasis and type 2 diabetes.

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.

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.

This paper estimates narrow-sense heritability using identity-by-descent information in unrelated individuals and finds that IBD-based methods can capture rare variant contributions but are affected by stratification.