The Next Generation of Population-Based DFNB16 Carrier Screening and Diagnosis: STRC Copy-Number Variant Analysis from Genome Sequencing Data.

Jiale Xiang,Jiguang Peng,Xiangzhong Sun, Zibin Lin,Dongdong Li, Haodong Ye,Sibao Wang,Yushi Bai,Xiaohong Wang,Peina Du,Ya Gao,Jun Sun,Silin Pan,Zhiyu Peng

Clinical chemistry（2023）

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摘要

We developed a novel and reliable method to determine STRC copy number based on standard short-read based WGS data. Incorporating this method into analytic pipelines would improve the clinical utility of WGS in the screening and diagnosis of hearing loss. Finally, we provide population-based evidence of pseudogene-mediated gene conversions between STRC and STRCP1.

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