Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting

Accurate interpretation of gene testing is a key component in customizing patient therapy. Where confirming evidence for a gene variant is lacking, computational prediction may be employed. A standardized framework, however, does not yet exist for quantitative evaluation of disease association for u...

Descripción completa

Detalles Bibliográficos
Autores principales: Crockett, David K, Ridge, Perry G, Wilson, Andrew R, Lyon, Elaine, Williams, Marc S, Narus, Scott P, Facelli, Julio C, Mitchell, Joyce A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3506914/
https://www.ncbi.nlm.nih.gov/pubmed/22640420
http://dx.doi.org/10.1186/gm347

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3506914/
https://www.ncbi.nlm.nih.gov/pubmed/22640420
http://dx.doi.org/10.1186/gm347

Ejemplares similares