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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Pubblicato in:BMC Med Genomics
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2016
Soggetti:
Research
Accesso online: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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