Normal-Tissue Absence, Rather Than Cross-Patient Prevalence, Limits a Fixed Splice-Junction Panel in Hepatocellular Carcinoma: From a Pre-Specified In Silico Screen to a Genome-Wide Analysis

Background/Objectives: A fixed splice-junction panel for hepatocellular carcinoma (HCC) requires junctions recurring across patients and absent from normal tissue; absence is inferred from non-detection in finite references.

Methods

Across 300 secreted, membrane-protein and HCC-associated genes, 1,263,305 junctions were screened for recurrence (≥30%) in 374 TCGA-LIHC tumours and absence in 50 matched normals and 251 GTEx liver samples.