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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...

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Autori principali: Mosley, Jonathan D., Van Driest, Sara L., Weeke, Peter E., Delaney, Jessica T., Wells, Quinn S., Bastarache, Lisa, Roden, Dan M., Denny, Josh C.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4065041/
https://ncbi.nlm.nih.gov/pubmed/24949630
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0100322
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