Ghislain Rocheleau

The omnicausal model reveals the highly polyfactorial nature of complex diseases

The paper introduces the omnicausal model to assess how phenome-wide risk factors collectively explain causality in complex diseases, showing they explain more variance than known risk factors.

The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration

The paper establishes a global consortium to discover rare genetic associations by integrating data from multiple biobanks, identifying 514 gene-trait associations, many detectable only through cross-ancestry meta-analysis.

Phenome-wide Mendelian randomization study of plasma triglycerides and 2,600 disease traits

This study uses Mendelian randomization to identify causal effects of plasma triglycerides on 2,600 disease traits, finding 19 significant associations including cardiovascular and non-atherosclerotic diseases.

A tissue-level phenome-wide network map of colocalized genes and phenotypes in the UK Biobank

The paper constructs a tissue-level phenome-wide network map linking genes and phenotypes using colocalized signals from the UK Biobank and Genotype-Tissue Expression project.

Prediction of recessive inheritance for missense variants in human disease

This paper introduces MOI-Pred, a tool for predicting recessive inheritance of missense variants, showing high accuracy in distinguishing recessive disease-causing variants.

Ancestrally and Temporally Diverse Analysis of Penetrance of Clinical Variants in 72,434 Individuals

The paper quantifies disease risk associated with 37,772 clinical variants across 72,434 individuals, revealing heterogeneity in penetrance and limitations of current variant classification systems.