Clarification on comments re Gene.symbol

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Need clarification on comments re Gene.symbol (row 24)

Current Definition

DEFINITION: A conventional sign used for representing the gene, based on the identified source.

EXAMPLE(S): BRCA1

OTHER NAME(S):

NOTE(S):

Ballot Comment

need to specify a value source e.g. HGNC gene symbols.

Current Disposition

Pending Input From Submitter

Proposed Disposition Comment

Can add the source for the example "BRCA1" (if an SME can provide it) and show it as an SC - string with optional code (with its code system). If this was a suggestion that BRIDG should bind to HGNC symbols, that's a vocabulary binding issue (future requirement) that the WG in consultation with CG SMEs should take up.

Outstanding Question

• Is this about vocabulary binding (which will be considered for future use) or is it about providing a more complete example?

Responses

Lauren Becnel: BRCA1 is an HGNC value for the human gene. Really genes are a canonical concept. Many different organizations such as HGSC, Entrez, Ensembl, etc. can establish gene symbols and identifiers.

DISCUSSION 20160223 (TYPE: EX): Gene.symbol is a DSET<SC> so we can update the example value to this: " As a string with an optional code, an example of Gene.symbol is as follows: the value "BRCA1" is both the string and the code and the code system name is "HGNC".

UPDATE DONE IN THE MODEL

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