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Lou, "Practical and theoretical considerations in study design for detecting gene-gene interactions using MDR and GMDR approaches," PLoS One, vol.
With the GMDR method, we structured gene-environment interaction models and detected a crucially significant four-order synergistic effect among CpG1, CpG3, and CpG4 methylation and smoking (P = 0.011), contributing strongly to the risk of EH.
Table 2: GMDR models of high-order gene-environment interaction in CYP11B2 promoter on EH risk.
2 GMDR Required Required 3 GMED Optional (a) Optional (a) Layer No.
The work group defined 3 layers of information for CGGDs: clinical genomic variant repositories (CGVRs), genomic medical data repositories (GMDRs), and genomic medicine evidence databases (GMEDs).
Layer 2: GMDRs.--Genomic medical data repository databases are CGVRs plus associated clinical information of significance to genomic test interpretation.
The standards that are layer specific include how and what clinical or phenotypic data to submit (GMDRs and GMEDs), the definition of variant classification (GMEDs), and the levels of evidence used to determine classification, diseaseassociation, or therapy association (GMEDs).
The standards in this section are discussed in the context of a CGVR (layer 1) but are applicable to GMDRs (layer 2) and GMEDs (layer 3) as well.
Curation.--Curation of GMDRs (layer 2) includes points discussed for CGVRs (layer 1) above, plus mechanisms to ensure the integrity of the clinical information that has been submitted.
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