Data and benchmarking results for deCYPher: a personal assembly-based framework for pharmacogenetic typing

Overview: This repository contains the dataset and benchmarking results for deCYPher, a computational framework designed for high-resolution star-allele typing of pharmacogenes using haplotype-resolved pangenome assemblies.

Contents: The uploaded files include:

• deCYPher_results.tar.gz: Comprehensive star-allele genotyping results generated by deCYPher across the Human Pangenome Reference Consortium (HPRC) dataset, covering 9 1A pharmacogenes (including CYP2D6, CYP2B6, and DPYD).

• Benchmarking Results: Comparative genotyping outputs from state-of-the-art pharmacogenetic tools used as baselines in this study:

  1. Aldy_results.tar.gz

  2. StellarPGx_results.tar.gz

  3. pbStarphase_results.tar.gz
     
     **The DRAGEN PGx star-allele calls used for comparison were obtained from the 1000G DRAGEN S3 bucket (publicly available benchmarking datasets).

• deCYPher-0.1.0.tar.gz: The archived version of the deCYPher source code (v0.1.0) used to produce the results presented in the manuscript.