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Enhanced identification of novel pathogenic variants in hereditary hearing loss through physical phasing with integrated short and long-read sequencing data

Crossref DOI link: https://doi.org/10.1007/s00438-025-02256-4

Published Online: 2025-06-23

Published Print: 2025-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Kang, Lu

Zhang, Qian

Wang, Chao

Geng, Jia

Li, Xinlei

Zhong, Mingjun

Liu, Sihan

Wang, Xuegang

Lu, Yu

Cheng, Jing

Ma, Yongxin

Bu, Fengxiao https://orcid.org/0000-0002-4882-4856
Yuan, Huijun
Funding

Funding for this research was provided by:

1•3•5 project for disciplines of excellence, West China Hospital, Sichuan University (ZYJC20002)

National Natural Science Foundation of China (82171836)
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Text and Data Mining valid from 2025-06-23

Version of Record valid from 2025-06-23
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Article History

Received: 30 October 2024

Accepted: 26 April 2025

First Online: 23 June 2025

Declarations

:

: This study was granted by the Institutional Review Board of West China Hospital (Reference number: 190). Participants or their guardians provided written informed consent before their inclusion in the study. All data have been anonymized according to the privacy restriction.

: The authors declare no conflict of interest.

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