/PEDIA-Charite.github.io

Primary LanguageRubyOtherNOASSERTION

DPDL Manual for data entry

This manual contains information on information gathering for DPDL including:

  • Usage of ClinVar, OMIM, HPO - TODO
  • Interpretation of HGVS and proper formatting - TODO
  • Data entry into face2gene - TODO

The page can be viewed at Pedia-Charite.