Haplo2D6: a web-based tool for automated CYP2D6 haplotype and phenotype inference

CYP2D6 haplotype reconstruction using PHASE algorithm, CNV integration, ClinPGx/PharmVar databases, activity score calculation and metabolizer phenotype prediction in a standardized, reproducible manner

Haplo2D6 is a free, browser-based web tool that automates CYP2D6 haplotype and metabolizer phenotype inference from clinical genotyping data. The tool integrates haplotype reconstruction (PHASE algorithm), copy number variation (CNV) assessment, standardized ClinPGx and PharmVar definitions, and activity score calculation for phenotype prediction. It improves reproducibility and reduces interpretation errors compared to manual workflows. The tool runs in any modern browser without installation and is designed for routine use in clinical pharmacogenetics.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

CYP2D6 interpretation is one of the most complex in pharmacogenomics due to CNVs, hybrid alleles, and composite haplotypes. Haplo2D6 provides a standardized, reproducible solution for laboratories implementing multi-gene PGx panels, reducing inter-interpreter variability. A tool to recommend for laboratories wishing to standardize their CYP2D6 pipeline without in-house bioinformatics development.

Clinical impact: 2/3 · Evidence strength: 2/3 · Novelty: 2/2 · Sample size: 1/1 · Publication status: 1/1 → Total: 8/10