Phenotypic match
Emedgene compares the proband’s phenotype profile with disease phenotypes associated with each gene.
This comparison produces phenotypic match scores that help rank genes by relevance to the proband’s clinical presentation. If a gene is linked to multiple diseases, the best-matching disease determines the displayed score.
Use phenotypic match to:
Focus review on genes that best fit the core clinical presentation
Interpret phenotype-driven evidence during variant prioritization
Reduce the effect of less relevant phenotypes when weighting is needed (v100.40.0+)
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Phenotypic match models
Review the available scoring approaches and how each model matches disease phenotypes to the proband profile.
Phenotypic match strength
Interpret the similarity levels shown for phenotype matches during case review.
Phenotype weights (v100.40.0+)
Adjust phenotype weights to increase, reduce, or exclude their effect on live Phenomeld scoring.
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