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Integrating EMR-Linked and In Vivo Functional Genetic Data to Identify New Genotype-Phenotype Associations
The coupling of electronic medical records (EMR) with genetic data has created the potential for implementing reverse genetic approaches in humans, whereby the function of a gene is inferred from the shared pattern of morbidity among homozygotes of a genetic variant. We explored the feasibility of t...
Autores principales: | Mosley, Jonathan D., Van Driest, Sara L., Weeke, Peter E., Delaney, Jessica T., Wells, Quinn S., Bastarache, Lisa, Roden, Dan M., Denny, Josh C. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065041/ https://www.ncbi.nlm.nih.gov/pubmed/24949630 http://dx.doi.org/10.1371/journal.pone.0100322 |
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