Ya‐Chien Yang

Graph-KIR estimates KIR gene copy numbers and calls 7-digit alleles from WGS data with high accuracy, outperforming existing tools.

The paper identifies 335 novel T cell receptor alleles in 47 pangenome reference individuals using the gAIRR Suite, significantly expanding the IMGT database.

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

gAIRR-wgs accurately calls T cell receptor alleles from whole genome sequencing data, identifying novel alleles and population-specific diversity patterns.

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 develops a tool to analyze KIR gene diversity using pangenome assemblies and identifies novel alleles and structural variants in human genomes.