Tracking updates in clinical databases increases efficiency for variant reanalysis

Purpose: Variant interpretation, guided by American College of Medical Genetics and Genomics guidelines, can inform clinical decision-making. However, interpretations may change over time for a variety of reasons. Periodic reanalysis of previous variant interpretations is important to ensure that re...

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Detalhes bibliográficos
Principais autores: Lele Li, Xia Tian, Vaughan Woodzell, Richard A. Gibbs, Bo Yuan, Eric Venner
Formato: Artigo
Idioma:English
Publicado em: Elsevier 2024-01-01
coleção:Genetics in Medicine Open
Assuntos:
Acesso em linha:http://www.sciencedirect.com/science/article/pii/S2949774424009877