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The usefulness of whole-exome sequencing in routine clinical practice

The usefulness of whole-exome sequencing in routine clinical practice

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1680440921

The usefulness of whole-exome sequencing in routine clinical practice

About this item

Full title

The usefulness of whole-exome sequencing in routine clinical practice

Publisher

New York: Nature Publishing Group US

Journal title

Genetics in medicine, 2014-12, Vol.16 (12), p.922-931

Language

English

Formats

Publication information

Publisher

New York: Nature Publishing Group US

More information

Scope and Contents

Contents

Purpose:
Reports of the use of whole-exome sequencing in clinical practice are limited. We report our experience with whole-exome sequencing in 115 patients in a single center and evaluate its feasibility and clinical usefulness in clinical care.
Methods:
Whole-exome sequencing was utilized based on the judgment of three clinical geneticis...

Alternative Titles

Full title

The usefulness of whole-exome sequencing in routine clinical practice

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_1680440921

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1680440921

Other Identifiers

ISSN

1098-3600

E-ISSN

1530-0366

DOI

10.1038/gim.2014.58

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