Florian Sandron

This study compares short and long read sequencing technologies for human genome profiling, finding they are equivalent for SNVs but long reads excel in structural variants and haplotype phasing.

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.

ContaTester estimates cross-contamination in human DNA samples using VCF files, offering fast and efficient contamination detection for large cohorts.

The paper identifies a PSMC3 variant causing a neurosensory syndrome with deafness and cataracts due to proteotoxic stress and impaired proteasome function.