Chuan‐Jen Hsu

CyriPanel for CYP2D6 Genotyping from Targeted Capture Panels Using Assay-Matched Diploid References

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

Unique SLC26A4 Mutation Spectrum in Mongolian Patients with Enlarged Vestibular Aqueduct: A Whole-Exome Sequencing Study

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

Comprehensive genetic analysis of STRC variants in hereditary hearing impairment using long-read sequencing

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.

Toward the pathogenicity of the SLC26A4 p.C565Y variant using a genetically driven mouse model

The paper investigates the pathogenicity of the SLC26A4 p.C565Y variant using genetically modified mice, finding it non-pathogenic in mice despite being reported as pathogenic in humans.