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...

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Detalles Bibliográficos
Publicado en:Hum Mutat
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: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2017
Materias:
Methods
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5655771/
https://ncbi.nlm.nih.gov/pubmed/28106320
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23183
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