Stéphanie Chatel

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

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.

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.

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