Tutorial for variant interrogation in tumor samples
Fig 3
Example variant prioritization scheme.
The flowchart illustrates a strategy for prioritizing variants into four bins based on predicted pathogenicity. Variants are initially assigned to a bin using criteria including ClinVar annotations, COSMIC frequency, and SpliceAI scores. Variants may then be reclassified to a different bin based on additional pathogenicity criteria, such as Franklin classifications (for promotion from Bin 2 to Bin 1), or other computational predictors including CADD, REVEL, and phastCons conservation scores (for promotion from Bin 4 to Bin 3, or Bin 3 to Bin 2). Bin 1 contains pathogenic variants, Bin 2 contains likely pathogenic variants, Bin 3 contains variants of uncertain significance (VUS), and Bin 4 represents likely benign or benign variants. Created in BioRender. Arseneau, R. (2026) https://BioRender.com/o4pbmzu.