Daniel Hüebschmann

Global signatures of Ribonucleotide Excision Repair deficiency and its therapeutic vulnerabilities

This study identifies RER deficiency as a new DNA repair defect in cancer, detectable through mutational signatures and linked to therapeutic vulnerabilities.

Magel2 deficiency drives microglial synaptic engulfment and alters neuron-microglia interactions in Prader-Willi syndrome

This study shows that Magel2 deficiency in a mouse model of Prader-Willi syndrome causes microglial structural changes and increased synaptic engulfment, altering neuron-microglia interactions and hypothalamic circuit function.

Systematic functional drug testing in patient-derived models reveals ex vivo sensitivities associated with clinical outcome in rare solid tumors

This study develops an ex vivo drug sensitivity testing platform for rare solid tumors and finds that high in vitro sensitivity correlates with clinical benefit and progression-free survival.

Deciphering programs of transcriptional regulation by combined deconvolution of multiple omics layers

The paper introduces a method to disentangle multi-omics data and identifies regulatory mechanisms in human blood cells.

Large-Scale Uniform Analysis of Cancer Whole Genomes in Multiple Computing Environments

The paper describes the PCAWG project's large-scale analysis of cancer whole genomes across multiple computing environments, producing validated consensus variants for downstream research.