Genetic & Genomic MedicinemedRxivPreprint
Comprehensive genetic analysis of STRC variants in hereditary hearing impairment using long-read sequencing
Cheng‐Yu Tsai, Yue-Sheng Lu, Yu‐Ting Chiang…·Chen‐Chi Wu
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.
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