Family members affected

fairgenomes / information

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Family members affected #21

Closed gurnoor1990 closed 3 years ago

gurnoor1990 commented 4 years ago

Option 1: to annotate meta-data

http://bioportal.bioontology.org/ontologies/APAONTO?p=classes&conceptid=http%3A%2F%2Fontology.apa.org%2Fapaonto%2FtermsonlyOUT%2520(5).owl%23Biological_Family

gurnoor1990 commented 4 years ago

Subclass of this to annotate data elements https://bioportal.bioontology.org/ontologies/GSSO/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C41256

joerivandervelde commented 4 years ago

need: pedigree information. in either free text or structured data or image.. ? alternative: add the known inheritance pattern in this family (X-linked, dominant, recessive, etc). Does PassPedigree have a format? use that to provide pedigree info.

gurnoor1990 commented 4 years ago

Disuss this with Jeroen Baliien, shall we add the pedigree file as a [datatype] here?

privacy sensitivity

jambelien commented 4 years ago

tricky point. May be better to have a short call and invite a clinical geneticist

joerivandervelde commented 3 years ago

Move discussion to https://github.com/fairgenomes/fairgenomes-semantic-model/issues/12