Work

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

Year: 2026

Type: article

Abstract: Motivation: genotype data into metabolizer phenotypes. Using haplotype reconstruction with the PHASE algorithm, integration of copy number variation estimates, and curated definitions from ClinPGx and PharmVar, Haplo2D6 assigns star alleles, incorporates gene deletions and duplications, calculates activity scores (AS), and predicts phenotype. Results: This standardized, high-throughput approach improves reproducibility and reduces interpretation errors compared to manual workflows. It runs in any modern web browser, requires no installation, supports batch processing, and generates downloadable, human-readable results. Availability and implementation: Haplo2D6 is accessible at https://bioinfo.dcc.ufmg.br/Haplo2D6/ without registration.

Source: Bioinformatics Advances

DOI: 10.1093/bioadv/vbag136

Authors: Maria Carolina Silva de Barros Puça, Diego Mariano, Yanka Evellyn Alves Rodrigues Salazar, Raquel Cardoso de Melo-Minardi, Tais Nobrega de Sousa

Institutions: Karolinska Institutet, Fundação Oswaldo Cruz, Universidade Federal de Minas Gerais

Language: English

Topic: Pharmacogenetics and Drug Metabolism

Subfield: Pharmacology

Field: Pharmacology, Toxicology and Pharmaceutics

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,726