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Author

Shih-Feng Tsai

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Open access Aug 2026

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

The NHRI-RP-1 demonstrated a superior F1 score on local match, genotype concordance and r-squared, as compared to those using worldwide reference genomes, particularly for rare MAFs, particularly for rare MAFs.

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

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