Emmanuelle Génin

This paper proposes a context-dependent framework for variant interpretation by analyzing LPL loss-of-function variants, showing how residual activity levels influence clinical outcomes.

This paper shows that repurposing existing human WGS saliva data for microbiome profiling is feasible, with sequencing depth overcoming extraction bias and enabling robust oral microbiome analysis.

The paper introduces MORFEE, a tool to identify SNVs altering small ORFs in human transcripts, and presents MORFEEdb, a catalog of such variants, showing over 45% of UTR-SNVs can affect upORFs or dORFs.

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.

The paper identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.

The paper validates a seven-category variant classification system by testing its applicability across different Mendelian disease contexts and demonstrates its utility for variant interpretation and genetic counseling.

The paper identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer's Disease using exome sequencing data from 32,558 individuals.

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 proposes a new variant classification framework for chronic pancreatitis, introducing new categories to better classify variants in disease-causing and predisposing genes.

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 evaluates saliva as a source for whole-genome and microbiome sequencing by comparing it to blood-based sequencing in 39 individuals.

Cutevariant is a GUI-based tool for exploring DNA variations in genomic data using a relational database and customizable plugins.

The paper identifies p.Arg90Leu as a variant in CELA3B associated with chronic pancreatitis, reverting to an ancestral allele and confirming CELA3B's role in CP etiology.

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.

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