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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Detaylı Bibliyografya
Yayımlandı:Hum Mutat
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2017
Konular:
Methods
Online Erişim: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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