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Clinical utility of genomic sequencing: a measurement toolkit

Clinical utility of genomic sequencing: a measurement toolkit

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1ed1964adc59405fabebc0e2ef72b8b1

Clinical utility of genomic sequencing: a measurement toolkit

About this item

Full title

Clinical utility of genomic sequencing: a measurement toolkit

Publisher

London: Nature Publishing Group UK

Journal title

Npj genomic medicine, 2020-12, Vol.5 (1), p.56-56, Article 56

Language

English

Formats

Publication information

Publisher

London: Nature Publishing Group UK

More information

Scope and Contents

Contents

Whole-genome sequencing (WGS) is positioned to become one of the most robust strategies for achieving timely diagnosis of rare genomic diseases. Despite its favorable diagnostic performance compared to conventional testing strategies, routine use and reimbursement of WGS are hampered by inconsistencies in the definition and measurement of clinical...

Alternative Titles

Full title

Clinical utility of genomic sequencing: a measurement toolkit

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_1ed1964adc59405fabebc0e2ef72b8b1

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1ed1964adc59405fabebc0e2ef72b8b1

Other Identifiers

ISSN

2056-7944

E-ISSN

2056-7944

DOI

10.1038/s41525-020-00164-7

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