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Add AlphaMissense and ESM1b score in protein function #1176
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Add AlphaMissense and ESM1b score in protein function #1176
nakib103
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Ensembl:postreleasefix/116
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nakib103:dbnsfp_pipeline_upd
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jamie-m-a
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Sep 24, 2025
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Looks generally fine, some suggested changes - see individual comments
modules/Bio/EnsEMBL/Variation/Pipeline/ProteinFunction/ProteinFunction_conf.pm
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jamie-m-a
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Sep 25, 2025
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sprintf seems to have solved the problematic esm1b scores - thanks!
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https://embl.atlassian.net/browse/ENSVAR-6812
Pipeline update:
Update ProteinFunction pipeline to load AlphaMissense and ESM1b scores and prediction instead of MetaLR and MutationAssessor. This will be effective for dbNSFP version >= 5.0.
API update:
The API have added functionality to retrieve and store from these 2 predictors.
Unit test update:
Because of the change to prediction bit occupying 2 bits to 3 bits, we needed to update the protein function matrix in test database -
modules/t/test-genome-DBs/homo_sapiens/variation/protein_function_predictions.txt
The same has not been done for cache, partly due to complexity in generating those and because only one test is effected by this. The test data has been change for this test case so it can pass.
Besides above, test data has been added for dbNSFP 5.0 and 5.2 and the new predictors.
Test
pipeline - http://guihive.ebi.ac.uk:8080/versions/96/?driver=mysql&username=ensadmin&host=mysql-ens-var-prod-4&port=4694&dbname=snhossain_ehive_pf_dbsnfp_test_116_38_homo_sapiens&passwd=xxxxx
(the pipeline was not fully run because of codon unavailability)
The following database has been updated with the above pipeline -
@v4
snhossain_homo_sapiens_variation_116_38
Related PRs -
Ensembl/ensembl-webcode#1100
Ensembl/public-plugins#910
Ensembl/ensembl-glossary#11