7 research outputs found

    Additional file 1: Figure S1. of ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants

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    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

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    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 1649 kb
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