Dataset Information

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 data of a multigene panel, and exam the reasons for new diagnoses.

Methods

A total of 210 samples were enlisted, including clinical reports and sequencing data of patients with congenital/prelingual hearing loss who were referred to clinical genetic testing from October 2014 to June 2017. All variants listed on the original clinical reports were reinterpreted according to the standards and guidelines recommended by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP). Expanded analysis of raw data were performed in undiagnosed cases.

Results

Re-analysis resulted in nine new diagnoses, improving the overall diagnostic rate from 39 to 43%. New diagnoses were attributed to newly published clinical evidence in the literature, adoption of new interpretation guidelines and expanded analysis range.

Conclusion

This work demonstrates benefits of reanalysis of targeted gene panel data, indicating that periodical reanalysis should be performed in clinical practice.

SUBMITTER: Sun Y

PROVIDER: S-EPMC6540452 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature

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Publications

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

Sun Yu Y Xiang Jiale J Liu Yidong Y Chen Sen S Yu Jintao J Peng Jiguang J Liu Zijing Z Chen Lisha L Sun Jun J Yang Yun Y Yang Yaping Y Zhou Yulin Y Peng Zhiyu Z

BMC medical genomics 20190528 1

<h4>Background</h4>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 data of a multigene panel, and exam the reasons for new diagnoses.<h4>Methods</h4>A total of 210 samples were enlisted, including clinical reports and sequencing data of patients with congenital/prelin ...[more]

PMID: 31138263

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Dataset Information

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

Background

Methods

Results

Conclusion

Publications

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

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