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Synthesis-View: visualization and interpretation of SNP association results for multi-cohort, multi-phenotype data and meta-analysis
2010
BioData Mining
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As a result, we have created "Synthesis-View" software for the visualization of genotype-phenotype association data in multiple cohorts. ...
New approaches for visualizing resultant data are necessary in order to fully interpret results and obtain a broad view of the trends between DNA variation and phenotypes, as well as provide information ...
Acknowledgements We would like to acknowledge the following individuals for their suggestions and ideas in designing Synthesis-View: Matthew Thomas Oetjens, Janina Jeff, Logan Dumitrescu, Fredrick Schumacher ...
doi:10.1186/1756-0381-3-10
pmid:21162740
pmcid:PMC3012023
fatcat:k4hq6alrmrearhghrahrnb7hya
Phenome-Wide Association Studies: Embracing Complexity for Discovery
2015
Human Heredity
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Here, we describe how incorporating greater complexity into analyses through the use of additional phenotypic data and widespread deployment of phenome-wide association studies may provide new insights ...
The genome-wide association study (GWAS) approach has well-developed methods and relatively straight-forward methodologies; however, the bigger picture of the impact of genetic architecture on phenotypic ...
Visually exploring PheWAS results is extremely useful for identifying trends in the data, and there are several software packages that provide a way to plot PheWAS results: Synthesis-View [124, 125] ...
doi:10.1159/000381851
pmid:26201697
fatcat:eoc265qmjfamxknwjz3rlbr3gy
Epistatic Gene-Based Interaction Analyses for Glaucoma in eMERGE and NEIGHBOR Consortium
2016
PLoS Genetics
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EMR data in detecting non-spurious and relevant associations; this analysis was aimed at confirming already known associations with glaucoma and validating the EMR derived glaucoma phenotype. ...
We then performed an interaction analysis for variants found to be marginally associated with glaucoma (SNPs with main effect p-value <0.01) and observed interesting findings in the electronic MEdical ...
Acknowledgments
eMERGE II contributors Contributed reagents/materials/analysis tools: SSV JNCB. Wrote the paper: SSV JNCB MDR JLH JLW. ...
doi:10.1371/journal.pgen.1006186
pmid:27623284
pmcid:PMC5021356
fatcat:esgudypfffbqhg5nol33lipdmq