Welcome to the Pharmacogenetics Analysis Workflow . This is a documentation site containing instructions and technical discussion on the use of the Pharmacogenetics Analysis Workflow, a snakemake-powered workflow, developed under the Institute for Cellular and Molecular Medicine by Graeme Ford. This workflow is designed to perform the following bioinformatics functions:

Perform variant frequency analysis
Perform variant-effect-prediction

This work is licensed under a Creative Commons Attribution 4.0 International License.

Previous versions of this workflow also incorperated a liftover-facility. This is no-longer supported. Please perform reference-genome liftover operations prior to analysis.

Publications and Citations

Should you wish to cite this project or software, please select an apropriate paper/s from the list below:

Title: Pharmacogenetics of CYP2A6, CYP2B6, and UGT2B7 in the Context of HIV Treatments in African Populations
Date: 05 Dec 2022
DOI: 10.3390/jpm12122013
Abstract: Objectives: This study focuses on identifying variations in selected CYP genes related to treatment responses in patients with HIV in African populations by investigating variant characteristics and effects in African cohorts. Design: Cytochrome P450 (CYP) 2A6, 2B6, and Uridine 5’-diphospho-glucuronosyltransferase (UGT) 2B7 allele frequencies were studied using public-domain datasets obtained from the 1000 Genomes Phase 3 project, the African Genome Variation Project (AGVP), and the South African Human Genome Programme (SAHGP). Methods: Variant annotations were performed using...