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...
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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]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2022

Übergeordnetes Werk:	In: npj Genomic Medicine - Nature Portfolio, 2016, 7(2022), 1, Seite 13
Übergeordnetes Werk:	volume:7 ; year:2022 ; number:1 ; pages:13

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1038/s41525-022-00295-z

Katalog-ID:	DOAJ058322159

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title	Best practices for the interpretation and reporting of clinical whole genome sequencing
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title_full	Best practices for the interpretation and reporting of clinical whole genome sequencing
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author_browse	Christina A. Austin-Tse Vaidehi Jobanputra Denise L. Perry David Bick Ryan J. Taft Eric Venner Richard A. Gibbs Ted Young Sarah Barnett John W. Belmont Nicole Boczek Shimul Chowdhury Katarzyna A. Ellsworth Saurav Guha Shashikant Kulkarni Cherisse Marcou Linyan Meng David R. Murdock Atteeq U. Rehman Elizabeth Spiteri Amanda Thomas-Wilson Hutton M. Kearney Heidi L. Rehm Medical Genome Initiative*
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title_sort	best practices for the interpretation and reporting of clinical whole genome sequencing
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title_auth	Best practices for the interpretation and reporting of clinical whole genome sequencing
abstract	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.
abstractGer	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.
abstract_unstemmed	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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title_short	Best practices for the interpretation and reporting of clinical whole genome sequencing
url	https://doi.org/10.1038/s41525-022-00295-z https://doaj.org/article/6905d648dde247ee8ce993083466d75f https://doaj.org/toc/2056-7944
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author2	Vaidehi Jobanputra Denise L. Perry David Bick Ryan J. Taft Eric Venner Richard A. Gibbs Ted Young Sarah Barnett John W. Belmont Nicole Boczek Shimul Chowdhury Katarzyna A. Ellsworth Saurav Guha Shashikant Kulkarni Cherisse Marcou Linyan Meng David R. Murdock Atteeq U. Rehman Elizabeth Spiteri Amanda Thomas-Wilson Hutton M. Kearney Heidi L. Rehm Medical Genome Initiative*
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