Stefan A. Kirov

Frameshifts may carry oncogenic potential beyond loss of function and categorize genes role in tumor development

The paper shows frameshift mutations have oncogenic potential in multiple tumors and suggests a new gene categorization beyond tumor suppressor and oncogene.

Mis-annotated multi nucleotide variants in public cancer genomics datasets can lead to inaccurate mutation calls with significant implications

The paper identifies mis-annotated multi-nucleotide variants (MNVs) in cancer genomics datasets, showing they lead to incorrect amino acid change predictions and recommends merging SNVs into MNVs for accurate variant annotation.

Bioinformatic Methods and Bridging of Assay Results for Reliable Tumor Mutational Burden Assessment in Non-Small Cell Lung Cancer

This paper evaluates TMB assessment methods in NSCLC using WES and FoundationOne CDx, finding high correlation between methods and parameter variations affecting results.

Degradation of the extracellular matrix is part of the pathology of ulcerative colitis

The paper re-analyzes proteomics data from ulcerative colitis colon biopsies, confirming NET upregulation and identifying ECM degradation and neutrophil maturation as novel pathological features.