All diagrams in overview and genetic evidence
Contextual genetic overlay
Interpret a genetic result through evidence, not a gene-name shortcut. Rare biochemical disorders and common ADHD association are not interchangeable.
Contextual genetic overlay
Evidence interpretation
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A genetic overlay should state variant identity and evidence class, then examine the gene, tissue, mechanism and phenotype. Common statistical associations are different from a proven pathogenic rare variant, and rare-variant burden studies are not the same as a diagnosis from one unreviewed call. Connections between genes and pathways can generate research hypotheses. They do not justify arrows directly from a SNP label to a personal symptom or treatment recommendation.
What the diagram shows
A genetic overlay should state variant identity and evidence class, then examine the gene, tissue, mechanism and phenotype. Common statistical associations are different from a proven pathogenic rare variant, and rare-variant burden studies are not the same as a diagnosis from one unreviewed call. Connections between genes and pathways can generate research hypotheses. They do not justify arrows directly from a SNP label to a personal symptom or treatment recommendation.