Phenotype weights (v100.40.0+)

By default, all proband phenotypes have the same 1× weight in Phenomeld score calculation.

Use phenotype weights to focus Phenomeld prioritization on the phenotypes most relevant to the primary diagnostic question.

A proband may have multiple documented phenotypes. If all phenotypes carry the same weight, Phenomeld may prioritize genes linked to secondary or incidental findings over genes that match the core clinical presentation.

In v100.40.0 and newer, you can change the weight of any proband phenotype to adjust its effect on Phenomeld gene prioritization.

Emphasize phenotypes that represent key features of the suspected condition and reduce or exclude the impact of less clinically relevant phenotypes on Phenomeld scoring.
Add additional phenotypes and set their impact on Phenomeld scoring.

You can do this in Phenomatch filters in Advanced mode (v100.40.0+). For instructions, see Phenomatch filters.

Use the following weighting factors to control how each phenotype affects Phenomeld scoring:

Weight

Effect

Critical

Applies a very high weight.

Strong

Applies an increased weight.

Standard

Applies the default weight.

Negative

Applies a negative weight.

Ignore

Applies zero weight and excludes the phenotype from the Phenomeld score calculation.

After you update phenotype weights or add additional phenotypes:

Phenomeld scores are recalculated.
Genes are re-ranked according to the recalculated Phenomeld scores.
Updated scores appear in the Weighted Phenomeld column in the variant table.

Adjusted phenotype weights and additional phenotypes are available only for the current user session. If you close and reopen the case, the adjustments are not retained.

Adjusted phenotype weights affect Phenomeld scoring only. AI-based rankings, including the AI Shortlist, remain unchanged.

The Weighted Phenomeld score is not included in reports or exports.