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Add AlphaMissense to the annotation sources #114

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sorgoz opened this issue Sep 19, 2023 · 2 comments
Open

Add AlphaMissense to the annotation sources #114

sorgoz opened this issue Sep 19, 2023 · 2 comments

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@sorgoz
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sorgoz commented Sep 19, 2023

AlphaFold's team just published a new tool - AlphaMissense:
https://www.science.org/doi/10.1126/science.adg7492

Calculated predictions are available at https://zenodo.org/record/8208688 (link taken from the original paper).

It would be great if you guys can add AlphaMissense to the sources for annotation. Thank you!

@DarioS
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DarioS commented Oct 23, 2023

It is probably quite similar to PrimateAI-3D, developed by Illumina.

"I am very surprised that AlphaMissense was published in Science after PrimateAI-3D,” says Vasilis Ntranos, senior author of a third recent algorithm, which classified variants based strictly on a protein language model.

Source: AlphaFold-derived AI Predicts Genetic Mutations’ Impact, Chemical & Engineering News

@rajatshuvro
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Hello @sorgoz , @DarioS ,
thanks you for using Nirvana. Unfortunately, we are not providing AlphaMissense as a natively supported annotation source at this time.

Would you be open to using AlphaMissense via the CustomAnnotation feature provided https://illumina.github.io/IlluminaAnnotatorDocumentation/file-formats/custom-annotations/ ?

Thanks
Rajat

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