Best practices for the interpretation and reporting of clinical whole genome sequencing
Abstract Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients with rare genetic disorders. However, standards addressing the definition and deployment practice of a best-in-class test are lacking. To address these gaps, the Medical Genome Initiative, a consortium...
Ausführliche Beschreibung
Autor*in: |
Christina A. Austin-Tse [verfasserIn] Vaidehi Jobanputra [verfasserIn] Denise L. Perry [verfasserIn] David Bick [verfasserIn] Ryan J. Taft [verfasserIn] Eric Venner [verfasserIn] Richard A. Gibbs [verfasserIn] Ted Young [verfasserIn] Sarah Barnett [verfasserIn] John W. Belmont [verfasserIn] Nicole Boczek [verfasserIn] Shimul Chowdhury [verfasserIn] Katarzyna A. Ellsworth [verfasserIn] Saurav Guha [verfasserIn] Shashikant Kulkarni [verfasserIn] Cherisse Marcou [verfasserIn] Linyan Meng [verfasserIn] David R. Murdock [verfasserIn] Atteeq U. Rehman [verfasserIn] Elizabeth Spiteri [verfasserIn] Amanda Thomas-Wilson [verfasserIn] Hutton M. Kearney [verfasserIn] Heidi L. Rehm [verfasserIn] Medical Genome Initiative* [verfasserIn] |
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E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2022 |
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Übergeordnetes Werk: |
In: npj Genomic Medicine - Nature Portfolio, 2016, 7(2022), 1, Seite 13 |
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Übergeordnetes Werk: |
volume:7 ; year:2022 ; number:1 ; pages:13 |
Links: |
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DOI / URN: |
10.1038/s41525-022-00295-z |
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DOAJ058322159 |
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10.1038/s41525-022-00295-z doi (DE-627)DOAJ058322159 (DE-599)DOAJ6905d648dde247ee8ce993083466d75f DE-627 ger DE-627 rakwb eng QH426-470 Christina A. Austin-Tse verfasserin aut Best practices for the interpretation and reporting of clinical whole genome sequencing 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients with rare genetic disorders. However, standards addressing the definition and deployment practice of a best-in-class test are lacking. To address these gaps, the Medical Genome Initiative, a consortium of leading health care and research organizations in the US and Canada, was formed to expand access to high quality clinical WGS by convening experts and publishing best practices. Here, we present best practice recommendations for the interpretation and reporting of clinical diagnostic WGS, including discussion of challenges and emerging approaches that will be critical to harness the full potential of this comprehensive test. Medicine R Genetics Vaidehi Jobanputra verfasserin aut Denise L. Perry verfasserin aut David Bick verfasserin aut Ryan J. Taft verfasserin aut Eric Venner verfasserin aut Richard A. Gibbs verfasserin aut Ted Young verfasserin aut Sarah Barnett verfasserin aut John W. Belmont verfasserin aut Nicole Boczek verfasserin aut Shimul Chowdhury verfasserin aut Katarzyna A. Ellsworth verfasserin aut Saurav Guha verfasserin aut Shashikant Kulkarni verfasserin aut Cherisse Marcou verfasserin aut Linyan Meng verfasserin aut David R. Murdock verfasserin aut Atteeq U. Rehman verfasserin aut Elizabeth Spiteri verfasserin aut Amanda Thomas-Wilson verfasserin aut Hutton M. Kearney verfasserin aut Heidi L. Rehm verfasserin aut Medical Genome Initiative* verfasserin aut In npj Genomic Medicine Nature Portfolio, 2016 7(2022), 1, Seite 13 (DE-627)820061727 (DE-600)2813848-X 20567944 nnns volume:7 year:2022 number:1 pages:13 https://doi.org/10.1038/s41525-022-00295-z kostenfrei https://doaj.org/article/6905d648dde247ee8ce993083466d75f kostenfrei https://doi.org/10.1038/s41525-022-00295-z kostenfrei https://doaj.org/toc/2056-7944 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 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_2014 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 7 2022 1 13 |
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Abstract Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients with rare genetic disorders. However, standards addressing the definition and deployment practice of a best-in-class test are lacking. To address these gaps, the Medical Genome Initiative, a consortium of leading health care and research organizations in the US and Canada, was formed to expand access to high quality clinical WGS by convening experts and publishing best practices. Here, we present best practice recommendations for the interpretation and reporting of clinical diagnostic WGS, including discussion of challenges and emerging approaches that will be critical to harness the full potential of this comprehensive test. |
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Abstract Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients with rare genetic disorders. However, standards addressing the definition and deployment practice of a best-in-class test are lacking. To address these gaps, the Medical Genome Initiative, a consortium of leading health care and research organizations in the US and Canada, was formed to expand access to high quality clinical WGS by convening experts and publishing best practices. Here, we present best practice recommendations for the interpretation and reporting of clinical diagnostic WGS, including discussion of challenges and emerging approaches that will be critical to harness the full potential of this comprehensive test. |
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Abstract Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients with rare genetic disorders. However, standards addressing the definition and deployment practice of a best-in-class test are lacking. To address these gaps, the Medical Genome Initiative, a consortium of leading health care and research organizations in the US and Canada, was formed to expand access to high quality clinical WGS by convening experts and publishing best practices. Here, we present best practice recommendations for the interpretation and reporting of clinical diagnostic WGS, including discussion of challenges and emerging approaches that will be critical to harness the full potential of this comprehensive test. |
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