Author

Jacob Shu-Jui Hsu

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Open access Aug 2026

A population-specific genomic reference panel for Taiwan: NHRI-RP-1

To enhance the efficiency of identifying rare variants within the Taiwanese population and to support genome-wide association studies (GWAS) and imputation studies for genetic risk prediction in the Han population, we have developed the National Health Research Institutes (NHRI) reference panel (NHRI-RP-1). NHRI-RP-1 i...

Kuang-Huan Cheng, Yi-Rong Chen, Ren-Hua Chung et al. · Journal of Biomedical Scienc... · 0 citations

Open access Sep 2026

Genome-wide association study of estimated glomerular filtration rate using repeated measurements in the Taiwan Biobank.

Background Chronic kidney disease (CKD) is a major global public health issue, with genetic factors playing a significant role in kidney function. Although genome-wide association studies (GWAS) have identified numerous loci associated with estimated glomerular filtration rate (eGFR), most studies relied on a single ti...

Yi-Chih Lin, Hsiao-Mei Tsao, Jacob Shu-Jui Hsu et al. · Kidney Research and Clinical... · 0 citations

Open access Jul 2026

Integrated analysis of STRC variants in hereditary hearing impairment using maker-mediated refinement of long-read sequencing with MLPA validation.

The results highlight the diagnostic utility of this combined strategy, integrating LRS with marker-mediated refinements that validated by MLPA assays, in detecting complex STRC variants and advance the understanding of the genetic etiology of SNHI that remains unresolved by conventional NGS approaches.

Cheng-Yu Tsai, Yue-Sheng Lu, Yu-Ting Chiang et al. · Molecular Medicine · 0 citations