Despite monumental advances in molecular technology to generate genome sequence data
at scale, there is still a considerable proportion of heritability in most complex diseases that …

Alzheimer's disease (AD) is a complex genetic disease, and variants identified through
genome-wide association studies (GWAS) explain only part of its heritability. Epistasis has …

Polygenic risk scores (PRSs) are expected to play a critical role in precision medicine.
Currently, PRS predictors are generally based on linear models using summary statistics …

Some genetic diseases (“digenic traits”) are due to the interaction between two DNA
variants, which presumably reflects biochemical interactions. For example, certain forms of …

Adult height is a highly heritable polygenic trait with heritability attributable to thousands of
independent variants. Large-scale studies have been able to detect genetic variants with …

The role of epistasis in human complex traits is poorly understood due to multiple
challenges linked to its combinatorial nature. In this thesis, we developed methods to tackle …