eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants.
Open Access
- 12 August 2016
- journal article
- research article
- Published by Springer Science and Business Media LLC in BMC Medical Genomics
- Vol. 9 (1), 32
- https://doi.org/10.1186/s12920-016-0191-8
Abstract
No abstract availableKeywords
This publication has 52 references indexed in Scilit:
- Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic EsophagitisFrontiers in Genetics, 2014
- Analysis of Stop-Gain and Frameshift Variants in Human Innate Immunity GenesPLoS Computational Biology, 2014
- The challenges, advantages and future of phenome‐wide association studiesImmunology, 2014
- Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study dataNature Biotechnology, 2013
- Phenome-Wide Association Study (PheWAS) for Detection of Pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) NetworkPLoS Genetics, 2013
- NMD: a multifaceted response to premature translational terminationNature Reviews Molecular Cell Biology, 2012
- Personalizing medicine with clinical pharmacogeneticsGenetics in Medicine, 2011
- Non-Synonymous and Synonymous Coding SNPs Show Similar Likelihood and Effect Size of Human Disease AssociationPLOS ONE, 2010
- PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene–disease associationsBioinformatics, 2010
- Loss-of-functionCYP2C9variants: finding the correct clinical role for Type 2 diabetes pharmacogenetic testingExpert Review of Cardiovascular Therapy, 2010