Hsin-Fu Lin

CyriPanel improves CYP2D6 genotyping accuracy using assay-matched diploid references and structural inference, achieving higher concordance than Aldy 4 in benchmark tests.

deCYPher is a computational framework for pharmacogene analysis using haplotype-resolved assemblies, demonstrating high accuracy in resolving complex gene structures and identifying allele variations.

TypeAssembly annotates complex genes in haplotype assemblies by estimating copy numbers and typing alleles, successfully applied to 41 genes, 17 KIR genes, and 15 pharmacogenes across 466 assemblies.

The paper evaluates somatic mutation detection methods across different sequencing and analysis pipelines to identify false negatives in drug-resistant mutations.