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Analysis of laboratory reporting practices using a quality assessment of a virtual patient

Analysis of laboratory reporting practices using a quality assessment of a virtual patient

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2496965683

Analysis of laboratory reporting practices using a quality assessment of a virtual patient

About this item

Full title

Analysis of laboratory reporting practices using a quality assessment of a virtual patient

Publisher

New York: Nature Publishing Group US

Journal title

Genetics in medicine, 2021-03, Vol.23 (3), p.562-570

Language

English

Formats

Publication information

Publisher

New York: Nature Publishing Group US

More information

Scope and Contents

Contents

Purpose
Existing research suggests that while some laboratories report variants of uncertain significance, unsolicited findings (UF), and/or secondary findings (SF) when performing exome sequencing, others do not.
Methods
To investigate reporting differences, we created virtual patient–parent trio data by merging variants from patients int...

Alternative Titles

Full title

Analysis of laboratory reporting practices using a quality assessment of a virtual patient

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_journals_2496965683

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2496965683

Other Identifiers

ISSN

1098-3600

E-ISSN

1530-0366

DOI

10.1038/s41436-020-01015-7

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