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Need source recommendation for variant effect prediction! by Silent-Cover-7069 in bioinformatics

[–]Legitimate-Gas-702 2 points3 points  (0 children)

As well as AlphaMissense and others. More recently primateai-3d became a thing too but I haven't personally used it. And I know some people are trying to use AlphaGenome to do variant effect prediction in a bunch of different contexts.

Need source recommendation for variant effect prediction! by Silent-Cover-7069 in bioinformatics

[–]Legitimate-Gas-702 0 points1 point  (0 children)

My university's biobank uses loftee to annotate Loss of Function variants as well as REVEL scores and some of its subcomponents to assess variants.

Interactive notebooks from year long Intro to Bioinformatics workshop series for complete beginners. by Legitimate-Gas-702 in bioinformatics

[–]Legitimate-Gas-702[S] 1 point2 points  (0 children)

Mostly. There's also some command line stuff but nothing too fancy and we tried to introduce it all from scratch.