broadinstitute / seqr

web-based analysis tool for rare disease genomics
GNU Affero General Public License v3.0
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Update in silico score information & display #3728

Closed lynnpais closed 11 months ago

lynnpais commented 11 months ago

Is your feature request related to a problem? Please describe. Need revisions to the work done in #3505

Describe the solution you'd like

  1. Spelling/ spacing All CAPS for - FATHMM, SIFT, CADD, REVEL, MPC, VEST Requires partial caps and spaces removed for - PolyPhen, MutTaster, MutPred, PrimateAI

  2. Remove citation in the hover over for SpliceAI and MPC as they were not changed/ not included in the new guidelines published

  3. Reorder the scores as follows CADD, REVEL, VEST, Mutpred2, MPC, SpliceAI. Others can go in the show more section.

Describe alternatives you've considered NA

Additional context NA

jklugherz commented 11 months ago

@lynnpais

2 says to remove citations for two in silico predictors. should I replace the citation with an older guideline or just remove the citation?

image

hanars commented 11 months ago

remove the citation, I don't think we know exactly where those cutoffs came from but I don't think they were published I think they were internal decision

jklugherz commented 11 months ago

are Mutpred and Mutpred2 the same score? should I use one or the other?

hanars commented 11 months ago

They are different versions of the same score. The actual versioning of the data is handled in the seqr loading pipeline and search backend, from the front end perspective the API response should have mutpred as the name of the field in the response, and we should show it to the user without the version number

jklugherz commented 11 months ago

out of the possible predictors, which ones do require a citation in the hover over?

hanars commented 11 months ago

out of the possible predictors, which ones do require a citation in the hover over?

cadd fathmm gerp mpc mut_pred polyphen primate_ai revel sift vest

hanars commented 11 months ago

these have been updated