This wiki has undergone a migration to Confluence found Here

Discussion on overall clarification on GeneticReference

From HL7Wiki
Revision as of 04:54, 4 December 2015 by Wverhoef (talk | contribs) (Created page with "__NOTOC__ Return to BRIDG ===Need overall clarification on GeneticReference (rows 49 & 50)=== ====Original Definition for GeneticReference==== DEFINITION: An assembly ...")
(diff) ← Older revision | Latest revision (diff) | Newer revision → (diff)
Jump to navigation Jump to search

Return to BRIDG

Need overall clarification on GeneticReference (rows 49 & 50)

Original Definition for GeneticReference

DEFINITION: An assembly of nucleotides used to identify genetic variations.

EXAMPLE(S): "A" might be the reference if the test is Nucleotide. "Trp" might be the reference if the test is Amino Acid.

OTHER NAME(S): Reference Sequence

NOTE(S):

Ballot Comment

The sequence is often made up of multiple residues. Proposed wording: ‘"A" might be an element of the reference if the test is Nucleotide. "Trp" might be an element of the reference if the test is Amino Acid.’

Proposed Definition for GeneticReference

DEFINITION: An assembly of nucleotides used to identify genetic variations.

EXAMPLE(S): "A" might be an element of the reference if the test is Nucleotide. "Trp" might be an element of the reference if the test is Amino Acid.

OTHER NAME(S): Reference Sequence ID for a sequence in a database

NOTE(S):

Proposed Disposition

Persuasive

Proposed Disposition Comment

Review proposed change with PGx SMEs to ensure change is consistent with their original use case for the concept.

Initial Discussion

Need SME team to refine wording, need to remodel connection between tests and MolBio area of the model, “reference” is an overused word – need clarification

MolSeq to ExpActItem to Activity – leverage this association – find out how test results would be modeled – are they also activity items?

Outstanding Questions

  • Are the only kinds of sequences that can be referenced nucleotides (examples reference both nucleotide and amino acid)? Does the definition need to be refined?
  • Is the range of possible genetic references the same as the identifier classes in the Molecular Biology sub-domain? (e.g. GeneticVariationIdentifier, ProteinIdentifier, GeneIdentifier, MessengerRNAIdentifier, PathwayIdentifier)
  • CDISC PGx SMEs: Are the proposed changes will supportive of your use case?

Responses

Please add your responses here...


Return to BRIDG