Jeroen F. J. Laros

ExonViz creates biologically accurate transcript figures with genetic variants and is available online and as a Python package.

Mutalyzer 2 checks and corrects HGVS variant descriptions automatically, improving accuracy in genetic data.

The paper shows Zbtb24 binding prevents promoter methylation and maintains gene activity in mouse embryonic stem cells.

This paper introduces a reference-free method to classify long-read metagenomic data using k-mer frequencies, demonstrating its ability to detect substructures within a metagenome without prior microbial sequence information.

This study identifies novel HPE genes and oligogenic inheritance patterns in holoprosencephaly by integrating clinical data with exome sequencing and gene prioritization.