Erik‐Jan Kamsteeg

This study evaluates long-read genome sequencing in rare disease diagnostics, finding high concordance with standard-of-care tests and incremental diagnostic benefits.

MotifScope identifies and visualizes tandem repeats in population context using a de novo k-mer approach, outperforming existing tools in motif discovery and representation.

The paper introduces otter and TREAT for accurate tandem repeat genotyping across long-read sequencing platforms, showing improved accuracy and identifying pathogenic expansions and disease associations.

This study evaluates optical genome mapping (OGM) for detecting STR repeat expansions and somatic instability, showing high accuracy and efficiency compared to current methods.

This study evaluates genome sequencing as a primary diagnostic tool for rare diseases, finding it can detect 95% of clinically relevant variants with a 0.3% false negative rate.

This paper identifies SMDT1 variants that cause EMRE protein absence and impair mitochondrial calcium uptake in patients with muscle involvement.

This study systematically analyzes short tandem repeats in exomes to improve diagnostic yield in genetic testing.

The paper reports three patients with biallelic EXOSC5 variants causing developmental delays, short stature, and cerebellar hypoplasia, and shows functional defects in RNA exosome activity.