Synth4bench: Synthetic Data Generation for Benchmarking Tumor-Only Somatic Variant Calling Algorithms
Styliani-Christina Fragkouli, Nikos Pechlivanis, Anastasia Anastasiadou, Georgios Karakatsoulis, Aspasia Orfanou, Panagoula Kolia, Andreas Agathangelidis, F. Psomopoulos
The paper develops synth4bench, a synthetic data pipeline to benchmark tumor-only somatic variant callers, revealing inconsistencies in tool performance and highlighting the need for sequencing optimization and caller selection.
Frontiers in Bioinformatics · Jul 16, 2026Peer-reviewedBioinformatics