7 research outputs found
Additional file 1: Table S1. of Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR)
Information for cohorts providing individual level data. Information regarding the geographic location, and numbers of individuals included from each cohort. (PDF 40 kb
Additional file 6:Ă‚Â Additional Acknowledgements. of Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR)
Acknowledgements and detailed descriptions of the five studies that provided the data for the analyses in this paper. (PDF 68Ă‚Â kb
Additional file 4: Table S3. of Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR)
Details of LD expanded models. Number of LD-expanded (proxy) SNP-SNP models generated for each original discovered SNP-SNP model. (XLSX 34 kb
Additional file 3: Figure S3. of ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants
A schematic showing a visual of evidence, assertion, and reasoning for the user csersite3. The evidence, assertion, and reasoning given in this panel is visible when the tab is switched from Final (as in Fig.Ă‚Â 1) to csersite3. (JPG 691 kb
Additional file 2: Figure S2. of ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants
Implementation of the ClinGen Pathogenicity Calculator. A An abstract diagram showing inputs and outputs. B Components of the Calculator, associated database, and web services. The direction of arrows shows data flow and component interactions. (JPG 2630 kb
Additional file 1: Figure S1. of ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants
A schematic showing a visual of evidence, assertion, and reasoning for the user csersite6. The evidence, assertion, and reasoning given in this panel is visible when the tab is switched from Final (see Fig. 1) to csersite6. The “Supporting” and “Very Strong” columns are highlighted after clicking on the top icon on the right of the “Pathogenic” rule, indicating the type of evidence still required for the rule to be satisfied and for the variant to be classified as “Pathogenic.” (JPG 685 kb
Additional file 1: Table S1. of Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals
Discovery results for all models that passed replication thresholds for MEF analysis. Column header definitions provided at the end. Table S2. Discovery results for all models that passed replication thresholds for Biofilter analysis. Column header definitions provided at the end. (PDF 1649Ă‚Â kb