Esther Rheinbay

This study identifies SIRT5-induced metabolic changes as a driver of chemoresistance in TNBC and reveals ATR checkpoint dependence as a therapeutic vulnerability.

SVelfie identifies cancer driver genes by analyzing enrichment of functional structural variants in cancer genomes.

This study shows that different FGFR2 mutations in cholangiocarcinoma affect biliary architecture based on the epithelial state of the cells, revealing distinct phenotypic consequences.

The paper identifies ERBB2/HOXB13 co-amplification with BRCA1 loss as a unique subset of breast cancers associated with shorter progression-free survival.

This study uses whole genome sequencing to analyze PDGFR-rearranged hypereosinophilic syndrome, finding simple genomics with the PDGFR rearrangement as the only recurrent driver event.

cDNA-detector identifies and removes exogenous cDNA contamination in DNA sequencing data, improving accuracy in downstream analysis.

The paper introduces a framework for assessing the quality of whole genome cancer sequences using a star rating system based on five QC measures, providing a tool for researchers to evaluate and exclude low-quality data.

The paper introduces the Cancer LncRNA Census (CLC), a curated resource of lncRNAs with causative roles in cancer, and shows their genomic and evolutionary features.

ActivePathways integrates multivariate omics data to identify enriched pathways, revealing cancer driver genes and prognostic pathways in breast cancer.

The paper identifies and characterizes coding and non-coding driver mutations across 2,500 cancer genomes, revealing new candidates and questioning previous findings.

This paper identifies driver mutations across 2,500 tumors from 37 cancer types, revealing a whole-genome panorama of genomic events that underlie tumor development.

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.