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...
Main Authors: | Jonathan D Mosley, Sara L Van Driest, Peter E Weeke, Jessica T Delaney, Quinn S Wells, Lisa Bastarache, Dan M Roden, Josh C Denny |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2014-01-01
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Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC4065041?pdf=render |
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