Vincent Bours

A randomized trial compares genome sequencing to standard of care in diagnosing developmental disorders, finding higher diagnostic yield with genome sequencing.

The paper introduces AUC hyper-stability scores to improve the selection of Random Forest implementations for stable short biomarker signature discovery.

The paper identifies NR6A1 variants as a cause of congenital renal, vertebral, and uterine anomalies through clinical and zebrafish model studies.

The paper assesses how normal cell contamination affects tumour SNP array analysis, showing signal confusion leads to misinterpretation of genotypes.

This study reports genomic surveillance in Rwanda from June to September 2021, showing the rapid spread and dominance of the Delta variant over other lineages, with implications for cross-border transmission.

This study analyzes SARS-CoV-2 genomic sequences from Rwanda to track variant evolution and regional spread, identifying emerging sub-lineages and VOCs introduced through travel.

The paper analyzes natural antisense transcripts (NATs) in breast cancer using RNA sequencing to identify their potential role in gene regulation and survival outcomes.