Finn Cilius Nielsen

This study uses FCCS to assess pathogenic variants in BRCA1 and other proteins, showing its effectiveness in identifying disease-causing mutations.

This study benchmarks three plate-based scRNA-seq protocols for high gene detection sensitivity, reproducibility, and cost efficiency in clinical applications.

The paper benchmarks CNV detection tools on WGS and WES data using clinical standards and reference samples, finding that combining multiple tools improves recall but precision remains a challenge.

The paper analyzes Achromobacter infections in cystic fibrosis patients using whole-genome sequencing to identify transmission patterns and antibiotic resistance development.

The paper uses super-resolution microscopy and fluorescence correlation spectroscopy to show that small mRNP granules contain single mRNAs and RNA-binding proteins, suggesting they are mRNA singletons.