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DeepMind AlphaMissense #427

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dnil opened this issue Sep 20, 2023 · 1 comment
Open

DeepMind AlphaMissense #427

dnil opened this issue Sep 20, 2023 · 1 comment
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Effort low enhancement Improvement for existing functionality on hold Not planned yet or needs refinement

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@dnil
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dnil commented Sep 20, 2023

Description of feature

DeepMind AlphaMissense is expected and welcome, better than previous though perhaps a little underwhelmingly so:
https://www.science.org/doi/10.1126/science.adg7492

Download for all missense SNVs:
https://console.cloud.google.com/storage/browser/dm_alphamissense
@dnil dnil added the enhancement Improvement for existing functionality label Sep 20, 2023
@jemten jemten added the on hold Not planned yet or needs refinement label Nov 13, 2023
@dnil
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dnil commented Jun 24, 2024

Now available as a plugin in VEP https://github.com/Ensembl/VEP_plugins/blob/release/112/AlphaMissense.pm. Should make it rather easier to implement. 😸

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