add alphaMissense Annotation #284
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Just a thought @JunheZoooo, VEP has https://github.com/Ensembl/VEP_plugins/blob/release/112/AlphaMissense.pm |
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@rhshah We have alpha missense in genome nexus now, but it's only available for a few variants for testing purpose(see example: 7:g.140453136A>T), we still need to come up with a plan to support this for all variants and also maintaining the consistency of vep annotation |
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Add AlphaMissense Pathogenicity Prediction and Score to Genome Nexus Annotation Pipeline
Description
This Pull Request adds one new column,
alphamissenseto the Genome Nexus annotation pipeline. These columns will be included in the output file when AlphaMissense data is available.