Ozvan Bocher

BiomiX 3.0: A user-friendly platform for democratized multi-omics integration with graph-based learning.

BiomiX 3.0 is a multi-omics integration platform that introduces PRAMIGO, a supervised heterogeneous graph transformer, and benchmarks five methods on CLL and PTB datasets, showing that no single method captures all biologically relevant signals.

Diet-responsive proteogenomic effects following short-term restriction of animal products in humans

The paper identifies diet-responsive cis-pQTLs in humans following short-term animal product restriction, revealing diet-dependent genetic regulation of proteins involved in metabolism and immunity.

Sequencing depth overcomes extraction bias: repurposing human WGS data for salivary microbiome profiling

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 effect of type 2 diabetes genetic predisposition on non-cardiovascular comorbidities

This study investigates causal links between T2D genetic clusters and non-cardiovascular comorbidities, identifying potential drug repurposing opportunities.

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.

PSAP-genomic-regions: a method leveraging population data to prioritize coding and non-coding variants in whole genome sequencing for rare disease diagnosis

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.

Multi-omics characterization of type 2 diabetes associated genetic variation.

This study integrates multi-omics data to identify genetic variants and molecular mechanisms associated with type 2 diabetes and highlights potential drug targets.

Insights into the metabolic consequences of type 2 diabetes

This study identifies metabolites causally linked to type 2 diabetes and its complications, revealing genetic regulation effects and metabolic pathways involved.

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.

Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications

This study identifies 1,289 genetic signals for type 2 diabetes in 2.5 million individuals, revealing distinct clusters linked to vascular complications and highlighting ancestry-specific genetic risk factors.

Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score

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.

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.