ursaPGx

ursaPGx annotates pharmacogenetic star alleles using phased whole-genome sequencing data from multi-sample VCF files and the PharmVar database.

Key Features:

• Phased WGS Data Input: Accepts multi-sample phased whole-genome sequencing data in VCF format.
• PharmVar Integration: Leverages the PharmVar database for pharmacogene annotation.
• Star Allele Output: Outputs star allele annotations for pharmacogenes.

Scientific Applications:

• Pharmacogenetic Annotation: Enables robust annotation of pharmacogenetic star alleles from high-confidence phased whole-genome sequencing data.
• Pharmacogene Analysis: Supports star allele calling for pharmacogenes catalogued in PharmVar.

Methodology:

The package processes phased whole-genome sequencing VCF input files to generate star allele annotations.