Unraveling the complex genetic landscape of OTOF-related hearing loss: a deep dive into cryptic variants and haplotype phasing

Unraveling the complex genetic landscape of OTOF-related hearing loss: a deep dive into cryptic variants and haplotype phasing

Abstract Background Pathogenic variants in OTOF are a major cause of auditory synaptopathy. However, challenges remain in interpreting OTOF variants, including difficulties in confirming haplotype phasing using traditional short-read sequencing (SRS) due to the large gene size, the potential incompl...

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Main Authors: Pei-Hsuan Lin, Cheng-Yu Tsai, Yu-Ting Chiang, Chang-Han Ho, Yue-Sheng Lu, Jacob Shu-Jui Hsu, Yen-Fu Cheng, Shih-Feng Tsai, Chuan-Jen Hsu, Pei-Lung Chen, Chen-Chi Wu
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Molecular Medicine
Subjects:
DFNB9
Short-read sequencing
Long-read sequencing
Splice prediction tool
Minigene assay
Online Access:https://doi.org/10.1186/s10020-025-01225-2
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https://doi.org/10.1186/s10020-025-01225-2

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