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Add alphaMissense in functional impact column #5042

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@leexgh leexgh commented Nov 13, 2024

Add alphaMissense in functional impact column. There are three discrete categories: 'benign', 'pathogenic', or 'ambiguous'. These are derived using the following thresholds: 'benign' if alphamissense_pathogenicity < 0.34; 'pathogenic' if alphamissense_pathogenicity > 0.564; and 'ambiguous' otherwise (category assignments are based on their website)

Test:

link

Add Functional Impact column:

image

Hover over AlphaMissense dots, tooltip shows more information:

image

Download:

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@onursumer onursumer left a comment

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Looks good to me! Just suggested a few minor changes.

arrowEl.style.display = 'none';
}

export const AlphaMissense_URL: string =
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Do we need an underscore here?

Suggested change
export const AlphaMissense_URL: string =
export const AlphaMissenseURL: string =

interface IFunctionalImpactColumnTooltipState {
active: 'mutationAssessor' | 'sift' | 'polyPhen2';
}

enum FunctionalImpactColumnsName {
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Not a big deal but FunctionalImpactColumnName might be a better name

legend() {
const showMutationAssessor = shouldShowMutationAssessor();
// Each line in the legend table uses the same style (mutationAssessorStyles)
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maybe rename mutationAssessorStyles to functionalImpactStyles or something like that?

FunctionalImpactColumnTooltip.siftText()}
{this.state.active === 'polyPhen2' &&
FunctionalImpactColumnTooltip.polyPhen2Text()}
{this.state.active ===
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Should we use mobx here instead of react state? I think we used to avoid built-in react state in favor of mobx. Not sure if we are still following that practice though.

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@inodb inodb left a comment

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Awsome work! Thank you so much for getting this done!

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3 participants