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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Detalhes bibliográficos

Principais autores:	Jonathan D Mosley, Sara L Van Driest, Peter E Weeke, Jessica T Delaney, Quinn S Wells, Lisa Bastarache, Dan M Roden, Josh C Denny
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Public Library of Science (PLoS) 2014-01-01
coleção:	PLoS ONE
Acesso em linha:	https://doi.org/10.1371/journal.pone.0100322
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