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LiuzLab / AI_MARRVEL

AI-MARRVEL (AIM) is an AI system for rare genetic disorder diagnosis
GNU General Public License v3.0
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HPO database updating #92

Open SpicyChicken6 opened 1 week ago

SpicyChicken6 commented 1 week ago

Description

We need an update for HPO database files to increase phenotype-matching performance. This includes 3 files: hpo.obo (structured hpo ontology), genemap2.txt (OMIM's Synopsis of human gene map), and phenotype.hpoa (MIM disease and hpos). image

Goal

  1. We want to update the hpo related database files for the AIM retraining.
  2. The old HPO_OMIM.tsv file AIM has been using needs to be rebuilt from phenotype.hpoa file.

Data source

The newest data files are obtained from https://github.com/obophenotype/human-phenotype-ontology/releases/tag/v2024-08-13

  1. hp-base.obo
  2. genemap2.txt
  3. phenotype.hpoa
SpicyChicken6 commented 1 week ago

commit 39b828e

allyssonallan commented 1 week ago

Thanks @SpicyChicken6, inside this hpo-base.obo we can find HP:6000717 that I was looking for.