Classification of Genes: Standardized Clinical Validity Assessment of Gene–Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

Ascertaining a diagnosis through exome sequencing can provide potential benefits to patients, insurance companies, and the healthcare system. Yet, as diagnostic sequencing is increasingly employed, vast amounts of human genetic data are produced that need careful curation. We discuss methods for acc...

Descripción completa

Detalles Bibliográficos
Autores principales: Smith, Erica D., Radtke, Kelly, Rossi, Mari, Shinde, Deepali N., Darabi, Sourat, El‐Khechen, Dima, Powis, Zöe, Helbig, Katherine, Waller, Kendra, Grange, Dorothy K., Tang, Sha, Farwell Hagman, Kelly D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Methods
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/
https://www.ncbi.nlm.nih.gov/pubmed/28106320
http://dx.doi.org/10.1002/humu.23183

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/
https://www.ncbi.nlm.nih.gov/pubmed/28106320
http://dx.doi.org/10.1002/humu.23183

Ejemplares similares