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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Opis bibliograficzny
Wydane w:BMC Med Genomics
Główni autorzy: 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
Język:Inglês
Wydane: BioMed Central 2016
Hasła przedmiotowe:
Research
Dostęp 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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