Pei‐Lung Chen

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

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

This study identifies biallelic SLC26A4 pathogenic variants in all Mongolian EVA patients, revealing a unique mutation spectrum across East, North, and Southwest Asian populations.

This study uses long-read sequencing to identify STRC variants in patients with hereditary hearing impairment, finding 11% diagnostic yield and highlighting LRS's ability to detect complex variants missed by conventional NGS.

This study analyzes mitochondrial DNA variation in the Taiwan Biobank, identifying pathogenic variants and associations with complex traits like myopia and renal function.

This paper evaluates the concordance of variant annotations from three tools on ClinVar variants, highlighting inconsistencies in pathogenicity interpretation.

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

PGSbuilder provides a web platform for GWAS and PRS analysis, enabling medical professionals to assess genetic risk using variant annotations and multiple PRS methods.

The paper identifies clinically relevant MetS sub-phenotypes using cluster analysis and GWAS, revealing distinct genotypic traits and potential drug targets for each subgroup.

This study reanalyzes 1,496 Taiwanese whole genome sequences to identify novel variants and clinically relevant genetic markers with potential medical implications.

The paper introduces gAIRR Suite, a toolset for profiling germline adaptive immune receptor repertoire, achieving high accuracy in allele calling and discovering novel alleles across multiple datasets.

variant2literature searches biomedical literature for genetic variants by processing images and normalizing variant formats to improve recall.