Comprehensive genetic analysis of STRC variants in hereditary hearing impairment using long-read sequencing
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 Shujui Hsu, 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.
medRxiv · Nov 5, 2024 · PreprintGenetic & Genomic Medicine