Increased diagnostic yield by reanalysis of data from a hearing loss gene panel

Increased diagnostic yield by reanalysis of data from a hearing loss gene panel

Abstract Background Congenital hearing loss affects approximately 1–2 infants out of every 1000, with 50% of the cases resulting from genetic factors. Targeted gene panels have been widely used for genetic diagnosis of hearing loss. This study aims to reveal new diagnoses via reanalyzing historical...

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Bibliographic Details
Main Authors: Yu Sun, Jiale Xiang, Yidong Liu, Sen Chen, Jintao Yu, Jiguang Peng, Zijing Liu, Lisha Chen, Jun Sun, Yun Yang, Yaping Yang, Yulin Zhou, Zhiyu Peng
Format: Article
Language:English
Published: BMC 2019-05-01
Series:BMC Medical Genomics
Subjects:
Reanalysis
Variant interpretation
Multigene panel
Hearing loss
Diagnostic yield
Online Access:http://link.springer.com/article/10.1186/s12920-019-0531-6

Internet

http://link.springer.com/article/10.1186/s12920-019-0531-6

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