Ariella Sasson

The paper describes exome sequencing of 200,643 UK Biobank participants, providing a rich resource of coding variants for genetic and drug discovery research.

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.

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

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.