Gaëlle Marenne

The paper demonstrates a privacy-preserving decentralized genotype imputation workflow using a federated approach, showing it can protect sensitive data while enabling imputation on plain-text files.

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

PSAP-genomic-regions improves variant prioritization in whole genome sequencing by incorporating functional genomic regions, enhancing detection of both coding and non-coding pathogenic variants in rare disease diagnosis.

The paper combines full-length gene splicing assay and SpliceAI to analyze splicing effects of SPINK1 coding variants, finding less than 2% of variants significantly impact splicing.

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.

RAVA-FIRST improves rare variant association testing in whole-genome data by using functionally-informed testing units and filtering, identifying a novel intergenic region linked to venous thromboembolism.

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 242 genetic loci for glycaemic traits using trans-ancestry meta-analysis, finding 99 novel loci and improved fine-mapping resolution compared to single-ancestry analyses.

The paper identifies genetic variants and transcripts associated with glycemic traits by analyzing exome-array data from 144,600 individuals, highlighting tissue-specific roles in glucose regulation.