Exome Sequencing and Clinical Diagnosis

Exome Sequencing and Clinical Diagnosis

This Viewpoint describes indications and proper clinical use and interpretation of exome sequencing, explaining that the testing is not diagnostic in itself but requires correlation with patients' history and presentation in the context of a comprehensive clinical evaluation.

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Bibliographische Detailangaben
Veröffentlicht in:JAMA : the journal of the American Medical Association 2020-08, Vol.324 (7), p.627-628
Hauptverfasser: Friedman, Jan M, Jones, Kenneth Lyons, Carey, John C
Format: Artikel
Sprache:eng
Schlagworte:
Diagnostic systems
General & Internal Medicine
Life Sciences & Biomedicine
Medicine, General & Internal
Science & Technology
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Beschreibung
Zusammenfassung:This Viewpoint describes indications and proper clinical use and interpretation of exome sequencing, explaining that the testing is not diagnostic in itself but requires correlation with patients' history and presentation in the context of a comprehensive clinical evaluation.
ISSN:0098-7484
1538-3598
DOI:10.1001/jama.2020.11126