Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Smith, E. D, Radtke, K., Rossi, M., Shinde, D. N, Darabi, S., El Khechen, D., Powis, Z., Helbig, K., Waller, K., Grange, D. K, Tang, S., & Hagman, K. D F. Human Mutation, 98:1067, January, 2017. ![Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications [link]](https://bibbase.org/img/filetypes/link.svg "link")
Paper doi abstract bibtex 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...
@article{smith_classification_2017,
title = {Classification of {Genes}: {Standardized} {Clinical} {Validity} {Assessment} of {Gene}-{Disease} {Associations} {Aids} {Diagnostic} {Exome} {Analysis} and {Reclassifications}},
volume = {98},
url = {http://onlinelibrary.wiley.com/doi/10.1002/humu.23183/abstract;jsessionid=035B850897D4E50B537269C0D17C37F9.f03t04?systemMessage=WOL+Usage+report+download+page+will+be+unavailable+on+Friday+27th+January+2017+at+23%3A00+GMT%2F+18%3A00+EST%2F+07%3A00+SGT+%28Saturday+28th+Jan+for+SGT%29++for+up+to+2+hours+due+to+essential+server+maintenance.+Apologies+for+the+inconvenience.},
doi = {10.1002/humu.23183},
abstract = {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...},
language = {English},
journal = {Human Mutation},
author = {Smith, Erica D and Radtke, Kelly and Rossi, Mari and Shinde, Deepali N and Darabi, Sourat and El Khechen, Dima and Powis, Zöe and Helbig, Katherine and Waller, Kendra and Grange, Dorothy K and Tang, Sha and Hagman, Kelly D Farwell},
month = jan,
year = {2017},
pages = {1067},
}
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