eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants

BACKGROUND: We explored premature stop-gain variants to test the hypothesis that variants, which are likely to have a consequence on protein structure and function, will reveal important insights with respect to the phenotypes associated with them. We performed a phenome-wide association study (PheW...

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Détails bibliographiques
Publié dans:BMC Med Genomics
Auteurs principaux: Verma, Anurag, Verma, Shefali S., Pendergrass, Sarah A., Crawford, Dana C., Crosslin, David R., Kuivaniemi, Helena, Bush, William S., Bradford, Yuki, Kullo, Iftikhar, Bielinski, Suzette J., Li, Rongling, Denny, Joshua C., Peissig, Peggy, Hebbring, Scott, De Andrade, Mariza, Ritchie, Marylyn D., Tromp, Gerard
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2016
Sujets:
Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4989894/
https://ncbi.nlm.nih.gov/pubmed/27535653
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-016-0191-8
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