Christian Dina C

Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndrome

This study identifies rare and low-frequency non-coding variants at the SCN5A locus associated with Brugada syndrome using whole-genome sequencing and functional assays.

SURFBAT: a surrogate family-based association test building on large imputation reference panels

SURFBAT approximates transmission-disequilibrium tests using imputed haplotypes to detect genotype-phenotype associations while being robust to population stratification.

Can imputation in a European country be improved by local reference panels? The example of France

The paper evaluates whether using a local reference panel improves imputation accuracy in French individuals compared to a public reference panel, showing benefits of combining both approaches.

On the Genes, Genealogies, and Geographies of Quebec

The paper models French Canadian ancestry using genealogical and genetic data, revealing population structure shaped by geography and migration.

Genetic population structure across Brittany and the downstream Loire basin provides new insights on the demographic history of Western Europe

The paper analyzes genetic structure in Brittany and the Loire basin to understand Western Europe's demographic history, finding increased population differentiation linked to steppe and Neolithic ancestry.

Genome-wide association meta-analysis supports genes involved in valve and cardiac development to associate with mitral valve prolapse

The paper performs a genome-wide association meta-analysis of mitral valve prolapse, identifying new risk loci and genes involved in cardiac development and aging.

Genetic Identification of Cell Types Underlying Brain Complex Traits Yields Novel Insights Into the Etiology of Parkinson's Disease

This study identifies cell types associated with brain complex traits using GWAS and single-cell transcriptomics, revealing novel roles for oligodendrocytes in Parkinson's disease.

Shared Genetic Risk between Eating Disorder- and Substance-Use-Related Phenotypes: Evidence from Genome-Wide Association Studies

The paper estimates genetic correlations between eating disorder and substance-use-related phenotypes using GWAS data, finding both positive and negative associations.

The Genetic History of France

This study analyzes SNP-chip data from 2,184 French individuals to identify genetic clusters, detect gene flow barriers, and estimate population size changes, revealing historical demographic patterns.

Genetic association analyses highlight IL6, ALPL, and NAV1 as three new susceptibility genes underlying calcific aortic valve stenosis

This study identifies three new susceptibility genes for calcific aortic valve stenosis through GWAS and TWAS, highlighting roles in inflammation, mineralization, and blood vessel integrity.

Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe

The paper analyzes the genetic structure of modern-day Italians to reveal ancient and archaic ancestries shaping Southern European populations and Neanderthal DNA distribution.

Genetic inhibition of PCSK9, atherogenic lipoprotein concentrations, and calcific aortic valve stenosis

This study shows genetic inhibition of PCSK9 lowers lipoprotein levels and reduces risk of CAD and CAVS, with PCSK9 present in calcified aortic valves and induced by oxidative stress.

GWAS-driven Pathway Analyses and Functional Validation Suggest GLIS1 as a Susceptibility Gene for Mitral Valve Prolapse

Integrated Clinical and Omics Approach to Rare Diseases: Novel Genes and Oligogenic Inheritance in Holoprosencephaly

This study identifies novel HPE genes and oligogenic inheritance patterns in holoprosencephaly by integrating clinical data with exome sequencing and gene prioritization.