Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations

BACKGROUND: Long QT syndrome (LQTS) is an autosomal dominant condition predisposing to sudden death from malignant arrhythmia. Genetic testing identifies many missense single nucleotide variants of uncertain pathogenicity. Establishing genetic pathogenicity is an essential prerequisite to family cas...

Descripción completa

Detalles Bibliográficos
Autores principales: Leong, Ivone US, Stuckey, Alexander, Lai, Daniel, Skinner, Jonathan R, Love, Donald R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4630850/
https://www.ncbi.nlm.nih.gov/pubmed/25967940
http://dx.doi.org/10.1186/s12881-015-0176-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4630850/
https://www.ncbi.nlm.nih.gov/pubmed/25967940
http://dx.doi.org/10.1186/s12881-015-0176-z

Ejemplares similares