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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Autor*in:	Yu Sun [verfasserIn] Jiale Xiang [verfasserIn] Yidong Liu [verfasserIn] Sen Chen [verfasserIn] Jintao Yu [verfasserIn] Jiguang Peng [verfasserIn] Zijing Liu [verfasserIn] Lisha Chen [verfasserIn] Jun Sun [verfasserIn] Yun Yang [verfasserIn] Yaping Yang [verfasserIn] Yulin Zhou [verfasserIn] Zhiyu Peng [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2019

Schlagwörter:	Reanalysis Variant interpretation Multigene panel Hearing loss Diagnostic yield

Übergeordnetes Werk:	In: BMC Medical Genomics - BMC, 2008, 12(2019), 1, Seite 8
Übergeordnetes Werk:	volume:12 ; year:2019 ; number:1 ; pages:8

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1186/s12920-019-0531-6

Katalog-ID:	DOAJ056052383

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520			\|a 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.
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allfields	10.1186/s12920-019-0531-6 doi (DE-627)DOAJ056052383 (DE-599)DOAJ0a20ba5ed517464ba9c2ade8d302d88b DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Yu Sun verfasserin aut Increased diagnostic yield by reanalysis of data from a hearing loss gene panel 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Reanalysis Variant interpretation Multigene panel Hearing loss Diagnostic yield Internal medicine Genetics Jiale Xiang verfasserin aut Yidong Liu verfasserin aut Sen Chen verfasserin aut Jintao Yu verfasserin aut Jiguang Peng verfasserin aut Zijing Liu verfasserin aut Lisha Chen verfasserin aut Jun Sun verfasserin aut Yun Yang verfasserin aut Yaping Yang verfasserin aut Yulin Zhou verfasserin aut Zhiyu Peng verfasserin aut In BMC Medical Genomics BMC, 2008 12(2019), 1, Seite 8 (DE-627)559080824 (DE-600)2411865-5 17558794 nnns volume:12 year:2019 number:1 pages:8 https://doi.org/10.1186/s12920-019-0531-6 kostenfrei https://doaj.org/article/0a20ba5ed517464ba9c2ade8d302d88b kostenfrei http://link.springer.com/article/10.1186/s12920-019-0531-6 kostenfrei https://doaj.org/toc/1755-8794 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2019 1 8
spelling	10.1186/s12920-019-0531-6 doi (DE-627)DOAJ056052383 (DE-599)DOAJ0a20ba5ed517464ba9c2ade8d302d88b DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Yu Sun verfasserin aut Increased diagnostic yield by reanalysis of data from a hearing loss gene panel 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Reanalysis Variant interpretation Multigene panel Hearing loss Diagnostic yield Internal medicine Genetics Jiale Xiang verfasserin aut Yidong Liu verfasserin aut Sen Chen verfasserin aut Jintao Yu verfasserin aut Jiguang Peng verfasserin aut Zijing Liu verfasserin aut Lisha Chen verfasserin aut Jun Sun verfasserin aut Yun Yang verfasserin aut Yaping Yang verfasserin aut Yulin Zhou verfasserin aut Zhiyu Peng verfasserin aut In BMC Medical Genomics BMC, 2008 12(2019), 1, Seite 8 (DE-627)559080824 (DE-600)2411865-5 17558794 nnns volume:12 year:2019 number:1 pages:8 https://doi.org/10.1186/s12920-019-0531-6 kostenfrei https://doaj.org/article/0a20ba5ed517464ba9c2ade8d302d88b kostenfrei http://link.springer.com/article/10.1186/s12920-019-0531-6 kostenfrei https://doaj.org/toc/1755-8794 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2019 1 8
allfields_unstemmed	10.1186/s12920-019-0531-6 doi (DE-627)DOAJ056052383 (DE-599)DOAJ0a20ba5ed517464ba9c2ade8d302d88b DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Yu Sun verfasserin aut Increased diagnostic yield by reanalysis of data from a hearing loss gene panel 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Reanalysis Variant interpretation Multigene panel Hearing loss Diagnostic yield Internal medicine Genetics Jiale Xiang verfasserin aut Yidong Liu verfasserin aut Sen Chen verfasserin aut Jintao Yu verfasserin aut Jiguang Peng verfasserin aut Zijing Liu verfasserin aut Lisha Chen verfasserin aut Jun Sun verfasserin aut Yun Yang verfasserin aut Yaping Yang verfasserin aut Yulin Zhou verfasserin aut Zhiyu Peng verfasserin aut In BMC Medical Genomics BMC, 2008 12(2019), 1, Seite 8 (DE-627)559080824 (DE-600)2411865-5 17558794 nnns volume:12 year:2019 number:1 pages:8 https://doi.org/10.1186/s12920-019-0531-6 kostenfrei https://doaj.org/article/0a20ba5ed517464ba9c2ade8d302d88b kostenfrei http://link.springer.com/article/10.1186/s12920-019-0531-6 kostenfrei https://doaj.org/toc/1755-8794 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2019 1 8
allfieldsGer	10.1186/s12920-019-0531-6 doi (DE-627)DOAJ056052383 (DE-599)DOAJ0a20ba5ed517464ba9c2ade8d302d88b DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Yu Sun verfasserin aut Increased diagnostic yield by reanalysis of data from a hearing loss gene panel 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Reanalysis Variant interpretation Multigene panel Hearing loss Diagnostic yield Internal medicine Genetics Jiale Xiang verfasserin aut Yidong Liu verfasserin aut Sen Chen verfasserin aut Jintao Yu verfasserin aut Jiguang Peng verfasserin aut Zijing Liu verfasserin aut Lisha Chen verfasserin aut Jun Sun verfasserin aut Yun Yang verfasserin aut Yaping Yang verfasserin aut Yulin Zhou verfasserin aut Zhiyu Peng verfasserin aut In BMC Medical Genomics BMC, 2008 12(2019), 1, Seite 8 (DE-627)559080824 (DE-600)2411865-5 17558794 nnns volume:12 year:2019 number:1 pages:8 https://doi.org/10.1186/s12920-019-0531-6 kostenfrei https://doaj.org/article/0a20ba5ed517464ba9c2ade8d302d88b kostenfrei http://link.springer.com/article/10.1186/s12920-019-0531-6 kostenfrei https://doaj.org/toc/1755-8794 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2019 1 8
allfieldsSound	10.1186/s12920-019-0531-6 doi (DE-627)DOAJ056052383 (DE-599)DOAJ0a20ba5ed517464ba9c2ade8d302d88b DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Yu Sun verfasserin aut Increased diagnostic yield by reanalysis of data from a hearing loss gene panel 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Reanalysis Variant interpretation Multigene panel Hearing loss Diagnostic yield Internal medicine Genetics Jiale Xiang verfasserin aut Yidong Liu verfasserin aut Sen Chen verfasserin aut Jintao Yu verfasserin aut Jiguang Peng verfasserin aut Zijing Liu verfasserin aut Lisha Chen verfasserin aut Jun Sun verfasserin aut Yun Yang verfasserin aut Yaping Yang verfasserin aut Yulin Zhou verfasserin aut Zhiyu Peng verfasserin aut In BMC Medical Genomics BMC, 2008 12(2019), 1, Seite 8 (DE-627)559080824 (DE-600)2411865-5 17558794 nnns volume:12 year:2019 number:1 pages:8 https://doi.org/10.1186/s12920-019-0531-6 kostenfrei https://doaj.org/article/0a20ba5ed517464ba9c2ade8d302d88b kostenfrei http://link.springer.com/article/10.1186/s12920-019-0531-6 kostenfrei https://doaj.org/toc/1755-8794 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2019 1 8
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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%. 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callnumber-first	R - Medicine
author	Yu Sun
spellingShingle	Yu Sun misc RC31-1245 misc QH426-470 misc Reanalysis misc Variant interpretation misc Multigene panel misc Hearing loss misc Diagnostic yield misc Internal medicine misc Genetics Increased diagnostic yield by reanalysis of data from a hearing loss gene panel
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topic_title	RC31-1245 QH426-470 Increased diagnostic yield by reanalysis of data from a hearing loss gene panel Reanalysis Variant interpretation Multigene panel Hearing loss Diagnostic yield
topic	misc RC31-1245 misc QH426-470 misc Reanalysis misc Variant interpretation misc Multigene panel misc Hearing loss misc Diagnostic yield misc Internal medicine misc Genetics
topic_unstemmed	misc RC31-1245 misc QH426-470 misc Reanalysis misc Variant interpretation misc Multigene panel misc Hearing loss misc Diagnostic yield misc Internal medicine misc Genetics
topic_browse	misc RC31-1245 misc QH426-470 misc Reanalysis misc Variant interpretation misc Multigene panel misc Hearing loss misc Diagnostic yield misc Internal medicine misc Genetics
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title	Increased diagnostic yield by reanalysis of data from a hearing loss gene panel
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title_full	Increased diagnostic yield by reanalysis of data from a hearing loss gene panel
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author_browse	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
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title_sort	increased diagnostic yield by reanalysis of data from a hearing loss gene panel
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title_auth	Increased diagnostic yield by reanalysis of data from a hearing loss gene panel
abstract	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.
abstractGer	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.
abstract_unstemmed	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.
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title_short	Increased diagnostic yield by reanalysis of data from a hearing loss gene panel
url	https://doi.org/10.1186/s12920-019-0531-6 https://doaj.org/article/0a20ba5ed517464ba9c2ade8d302d88b http://link.springer.com/article/10.1186/s12920-019-0531-6 https://doaj.org/toc/1755-8794
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up_date	2024-07-03T18:35:55.666Z
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New diagnoses were attributed to newly published clinical evidence in the literature, adoption of new interpretation guidelines and expanded analysis range. 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2008</subfield><subfield code="g">12(2019), 1, Seite 8</subfield><subfield code="w">(DE-627)559080824</subfield><subfield code="w">(DE-600)2411865-5</subfield><subfield code="x">17558794</subfield><subfield code="7">nnns</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:12</subfield><subfield code="g">year:2019</subfield><subfield code="g">number:1</subfield><subfield code="g">pages:8</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.1186/s12920-019-0531-6</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doaj.org/article/0a20ba5ed517464ba9c2ade8d302d88b</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">http://link.springer.com/article/10.1186/s12920-019-0531-6</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" 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Increased diagnostic yield by reanalysis of data from a hearing loss gene panel

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