Predictive value of genomic screening: cross-sectional study of cystic fibrosis in 50,788 electronic health records

Doubts have been raised about the value of DNA-based screening for low-prevalence monogenic conditions following reports of testing this approach using available electronic health record (EHR) as the sole phenotyping source. We hypothesized that a better model for EHR-focused examination of DNA-base...

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Detalles Bibliográficos
Autores principales: Sugunaraj, J. P., Brosius, H. M., Murray, M. F., Manickam, K., Stamm, J. A., Carey, D. J., Mirshahi, U. L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6726623/
https://www.ncbi.nlm.nih.gov/pubmed/31508243
http://dx.doi.org/10.1038/s41525-019-0095-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6726623/
https://www.ncbi.nlm.nih.gov/pubmed/31508243
http://dx.doi.org/10.1038/s41525-019-0095-6

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