> For the complete documentation index, see [llms.txt](https://help.connected.illumina.com/llms.txt). Markdown versions of documentation pages are available by appending `.md` to page URLs; this page is available as [Markdown](https://help.connected.illumina.com/emedgene/emedgene-analyze-manual/reviewing_a_case/phenotypic-match/phenotype-weights-v100.40.0+.md).

# 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.

{% hint style="info" %}
You can do this in **Phenomatch filters** in **Advanced** mode (v100.40.0+). For instructions, see [**Phenomatch filters**](/emedgene/emedgene-analyze-manual/reviewing_a_case/analysis-tools-tab-beta-v100.39.0+/filters_presets_panel/filters/simple-filter-operators-mode/phenomatch_filters.md).
{% endhint %}

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

<table><thead><tr><th width="133">Weight</th><th>Effect</th></tr></thead><tbody><tr><td><strong>Critical</strong></td><td>Applies a very high weight.</td></tr><tr><td><strong>Strong</strong></td><td>Applies an increased weight.</td></tr><tr><td><strong>Standard</strong></td><td>Applies the default weight.</td></tr><tr><td><strong>Negative</strong></td><td>Applies a negative weight.</td></tr><tr><td><strong>Ignore</strong></td><td>Applies zero weight and excludes the phenotype from the <strong>Phenomeld</strong> score calculation.</td></tr></tbody></table>

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.

## Learn more

<table data-view="cards"><thead><tr><th></th><th></th><th></th></tr></thead><tbody><tr><td><strong>Phenotypic match</strong></td><td>Overview of phenotypic match scoring, use cases, and related pages.</td><td><i class="fa-arrow-up-right-from-square">:arrow-up-right-from-square:</i> <a href="/pages/Nl3wTB3tS4WifWcXMiEK">Learn more</a></td></tr><tr><td><strong>Phenotypic match models</strong></td><td>Review the available scoring approaches and their score ranges.</td><td><i class="fa-arrow-up-right-from-square">:arrow-up-right-from-square:</i> <a href="/pages/1zGgR9anzOmdOcGBbssn">Learn more</a></td></tr><tr><td><strong>Phenotypic match strength</strong></td><td>Interpret exact, indirect, and no-match phenotype relationships.</td><td><i class="fa-arrow-up-right-from-square">:arrow-up-right-from-square:</i> <a href="/pages/tLh79erRUfz2Xf2owwaV">Learn more</a></td></tr><tr><td><strong>Phenomatch filters</strong></td><td>Apply phenotype weights and additional phenotypes in <strong>Advanced</strong> mode.</td><td><i class="fa-arrow-up-right-from-square">:arrow-up-right-from-square:</i> <a href="/pages/XFR0vR3kr2dS4hxWvMsK">Learn more</a></td></tr></tbody></table>


---

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