Discussion on overall clarification on GeneticReference
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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...
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