The Science and Art of Clinical Genetic Variant Classification and Its Impact on Test Accuracy

Clinical genetic variant classification science is a growing subspecialty of clinical genetics and genomics. The field's continued improvement is essential for the success of precision medicine in both germline (hereditary) and somatic (oncology) contexts. This review focuses on variant classif...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Annual review of genomics and human genetics 2021-01, Vol.22 (1), p.285-307
Hauptverfasser:	Giles, Hunter H, Hegde, Madhuri R, Lyon, Elaine, Stanley, Christine M, Kerr, Iain D, Garlapow, Megan E, Eggington, Julie M
Format:	Artikel
Sprache:	eng
Schlagworte:	Classification Classification systems Discordance DNA mutational analyses DNA sequencing Genetic diversity Next-generation sequencing oncology Precision medicine rare diseases variant classification
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!