HPO Annotation Q/C

HPOannotQC

Contents:

• Installing and running HPO Annotation Q/C
• HPO Annotation Small Files
  • Small file format
• HPO Annotation File Formats
  • phenotype.hpoa format

This application is designed to transform our internal HPO Annotation files (the small files) together with the Orphanet XML file into the phenotype.hpoa file. It performs extensive Q/C on the annotation files. By default it updates TermIds in the Orphanet files that have been updated.