Sjors Middelkamp

This study evaluates the impact of an individual-specific pangenome on somatic variant calling in a pediatric AML patient, finding reduced false positives and altered phylogenetic branching.

This study shows that chromosome 7 gain optimizes WNT signaling in colorectal cancer by counteracting excessive stemness from APC mutations.

The paper introduces PTATO, a bioinformatic workflow for detecting somatic mutations in single-cell WGS data using PTA, achieving high sensitivity for base substitutions and indels.

Sperm DNA damage leads to genomic defects in embryos through chromosome fragmentation and segregation errors.

This study prioritizes driver genes in patients with de novo genomic structural variants using integrative analysis of WGS data, phenotype information, and chromatin organization datasets.

This study uses nanopore sequencing to detect and phase structural variants in patient genomes, identifying novel variants missed by short-read sequencing.