Illumina/Nirvana

Add AlphaMissense to the annotation sources

sorgoz opened this issue · 2 comments

sorgoz commented

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 commented

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

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