Claude Bhérer

Phenome-wide Mendelian randomization identifying circulating proteins for cardiovascular traits in populations of African ancestry

This study uses Mendelian randomization to identify circulating proteins associated with cardiovascular traits in African-ancestry populations and finds four proteins uniquely linked to lipids and heart diseases in this group.

A multi-ancestry genetic reference for the Quebec population

The paper constructs a genetic reference panel for the Quebec population using whole-genome sequencing and GWAS to improve phenotype-genotype association discovery.

An Elevated Birth Prevalence of Fraser Syndrome in Quebec Linked To A Founder Pathogenic Variant

The paper estimates an elevated birth prevalence of Fraser syndrome in Quebec's French-Canadian population and identifies a founder pathogenic variant.

A MULTI-TRAIT APPROACH IMPROVES POLYGENIC RISK SCORES FOR CHRONIC BACK PAIN ACROSS POPULATION-BASED AND CLINICALLY ASCERTAINED SAMPLES

This paper improves polygenic risk scores for chronic back pain by combining multiple traits, showing better performance in clinical samples.

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases

The paper identifies enriched coding variants in a French-Canadian founder population and explores their association with inflammatory bowel diseases.

WEGS: a cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome

WEGS combines low-depth whole genome and high-depth whole exome sequencing to reduce costs while maintaining variant detection accuracy in genetic studies.

Rare splice and missense variants with evidence of pathogenicity in consanguineous families with autosomal recessive intellectual disability from Pakistan

Characterization of the Y Chromosome in Newfoundland and Labrador: Evidence of a Founder Effect

The paper analyzes Y chromosome data from Newfoundland and Labrador to show genetic evidence of a founder effect, with haplotypes primarily from English and Irish sources and some contributions from Basque, French, Portuguese, and Spanish populations.

Population genomics of the Viking world

This study analyzes ancient genomes from the Viking Age to understand genetic structure and migration patterns, finding significant foreign gene flow and population differentiation.