Friederike (Freddie) Ehrhart

Results 8 comments of Friederike (Freddie) Ehrhart

Interesting... It should not be the size of the total file, Exonic collection is bigger and that went through. If it is variant length, there should be a script that...

Tried the whole thing again - whole process from downloading vcf variation files from ensembl until variantCreator. Same error... Help!

Update from disease mapping demonstrator telcon today: DisGeNET or Wikidata were not mentioned yet, but there are several EBI/Orphanet attempts we could possibly use as data resources, too. Ontology Xref...

Yes, possible IF you include that some endpoints can be measured by multiple assays and vice versa. Depends also on the detailedness of the assay or endpoint. E.g. LDH assay...

It is not possible to link ontology terms from different sources (e.g. NPO and CHEBI) in ENM. As far as I understood (thanks to Gareths explanation) as soon as the...