Best practices for the interpretation and reporting of clinical whole genome sequencing
Best practices for the interpretation and reporting of clinical whole genome sequencing
About this item
Full title
Author / Creator
Medical Genome Initiative , Austin-Tse, Christina A. , Jobanputra, Vaidehi , Perry, Denise L. , Bick, David , Taft, Ryan J. , Venner, Eric , Gibbs, Richard A. , Young, Ted , Barnett, Sarah , Belmont, John W. , Boczek, Nicole , Chowdhury, Shimul , Ellsworth, Katarzyna A. , Guha, Saurav , Kulkarni, Shashikant , Marcou, Cherisse , Meng, Linyan , Murdock, David R. , Rehman, Atteeq U. , Spiteri, Elizabeth , Thomas-Wilson, Amanda , Kearney, Hutton M. and Rehm, Heidi L.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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...
Alternative Titles
Full title
Best practices for the interpretation and reporting of clinical whole genome sequencing
Authors, Artists and Contributors
Author / Creator
Austin-Tse, Christina A.
Jobanputra, Vaidehi
Perry, Denise L.
Bick, David
Taft, Ryan J.
Venner, Eric
Gibbs, Richard A.
Young, Ted
Barnett, Sarah
Belmont, John W.
Boczek, Nicole
Chowdhury, Shimul
Ellsworth, Katarzyna A.
Guha, Saurav
Kulkarni, Shashikant
Marcou, Cherisse
Meng, Linyan
Murdock, David R.
Rehman, Atteeq U.
Spiteri, Elizabeth
Thomas-Wilson, Amanda
Kearney, Hutton M.
Rehm, Heidi L.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_6905d648dde247ee8ce993083466d75f
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_6905d648dde247ee8ce993083466d75f
Other Identifiers
ISSN
2056-7944
E-ISSN
2056-7944
DOI
10.1038/s41525-022-00295-z
