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

Authors: Chang, Ting-Yu; Hsu, Jacob Shujui;

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

Abstract

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: Aldy_results.tar.gz StellarPGx_results.tar.gz 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.

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