Vincent Plagnol

Preventing premature deaths through polygenic risk scores

This study evaluates how polygenic risk scores can optimize screening programs to reduce premature deaths by tailoring screening ages based on genetic risk.

UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits

The paper releases and evaluates polygenic risk scores for 53 diseases and traits in the UK Biobank and shows they outperform existing scores.

A gradient of Wnt activity positions the neurosensory domains of the inner ear

The paper shows that a gradient of Wnt activity regulates Sox2 and Notch expression to position neurosensory domains in the inner ear.

An integrated polygenic and clinical risk tool enhances coronary artery disease prediction

This paper develops an integrated risk tool combining polygenic risk scores with clinical risk factors to improve coronary artery disease prediction, showing better performance than existing tools.

FUS ALS-causative mutations impact FUS autoregulation and the processing of RNA-binding proteins through intron retention

This study identifies how ALS-causative FUS mutations disrupt RNA processing and autoregulation, with implications for broader ALS genetic interactions.

Pheno4J: A Gene To Phenotype Graph Database

Pheno4J stores and queries genetic and phenotypic data in a graph database to improve efficiency for clinical genetic research.

Quantitative analysis of cryptic splicing associated with TDP-43 depletion

The paper quantifies cryptic exon inclusion in TDP-43 depleted datasets and shows they are bound by TDP-43 and not linked to FUS, with implications for ALS/FTD pathogenesis.

Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data

Phenopolis provides an open platform for integrating and analyzing sequencing and phenotype data to aid in clinical diagnosis and gene discovery.