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Shih-Feng Tsai

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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 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