From SNPs to Pathways: A genome-wide benchmark of annotation discrepancies and their impact on protein- and pathway-level inference
Bryan Queme, Anushya Muruganujan, Dustin Ebert, Tremayne Mushayahama, W. James Gauderman, Huaiyu Mi
The paper benchmarks SNP annotation tools and gene models across the genome, showing discrepancies in annotation and their impact on pathway analysis.
BMC Genomics · Apr 6, 2026Peer-reviewedBioinformatics