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January 27, 2025  |  Human genetics research

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

Authors: Cheng-Yu Tsai, Yue-Sheng Lu, Yu-Ting Chiang, Ming-Yu Lo, Pei-Hsuan Lin, Shih-Feng Tsai, Chuan-Jen Hsu, Pei-Lung Chen, Jacob Shu-Jui Hsu, Chen-Chi Wu

This study represents the first large-scale clinical investigation utilizing LRS technology for the genetic diagnosis of SNHI. Our study highlights the diagnostic capabilities of LRS in detecting complex variants within the STRC and advancing our understanding of the genetic etiology of SNHI that remains unresolved by conventional NGS.

Journal: medTxiv
DOI: 10.1101/2024.11.05.24316795
Year: 2024

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