A 14‐year‐old in heart failure with multiple cardiomyopathy variants illustrates a role for signal‐to‐noise analysis in gene test re‐interpretation

Variants of unknown significance in cardiomyopathic disease should be analyzed systematically based on the prevalence of the variant in the population compared to prevalence of disease, evidence that other variants in the gene are pathologic, consistency of prediction software on pathogenicity, and...

Descripción completa

Detalles Bibliográficos
Autores principales: Connell, Patrick S., Jeewa, Aamir, Kearney, Debra L., Tunuguntla, Hari, Denfield, Susan W., Allen, Hugh D., Landstrom, Andrew P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332775/
https://www.ncbi.nlm.nih.gov/pubmed/30656044
http://dx.doi.org/10.1002/ccr3.1920

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332775/
https://www.ncbi.nlm.nih.gov/pubmed/30656044
http://dx.doi.org/10.1002/ccr3.1920

Ejemplares similares