Wouter Steyaert

The paper shows that ectopic gene conversion, influenced by genome architecture, significantly shapes human allele frequencies, affecting both rare and common variants.

This paper creates a zebrafish model of Marfan syndrome by disrupting fibrillin genes, finding that fbn2b-/- zebrafish exhibit cardiovascular phenotypes similar to human disease.

The paper presents a standardized RNA-seq analysis framework for rare disease diagnosis, identifying molecular diagnoses in 7.7% of previously undiagnosed cases.

This study uses zebrafish models to link genetic mutations in type I collagen to phenotypic severity in OI, identifying biomarkers and mechanisms of variability.

The paper reanalyzes exome sequencing data from rare disease cases to identify previously undetected copy number variants, resulting in diagnoses for 51 families and partial explanations for 34 individuals.

This study reanalyzes exome sequencing data from 1,300 IEI patients, finding that systematic reanalysis increases the molecular diagnostic yield from 11.8% to 15.2%.

The paper uses HiFi long-read sequencing to identify genetic variants in undiagnosed rare disease families, finding novel diagnoses in 13% of cases and candidate variants in 4.3%.

DeNovoCNN is a deep learning tool for de novo variant calling in sequencing data, achieving high recall and precision compared to existing methods.

This study identifies damaging variants in IRF2BPL associated with neurological phenotypes in humans and shows functional conservation in fruit flies.