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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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: 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
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Methods
Acesso em linha: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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