Clarification on comments re Biomarker.name

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Need clarification on comments re Biomarker.name (row 22)

Current Definitions

Biomarker

DEFINITION: A measurable and quantifiable biological parameter which serves as index for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc. [Source: adapted from MESH]

EXAMPLE(S): Specific enzyme concentration, Specific hormone concentration, Specific gene phenotype distribution in a population, Presence of biological substances

OTHER NAME(S):

NOTE(S):

Biomarker.name

DEFINITION: The textual identifier for the biomarker as provided by the assigning source.

EXAMPLE(S): G48V, L10I, K20R, M36I, A71V, V82T

OTHER NAME(S):

NOTE(S):

Ballot Comment

examples all list variants using old standard for amino acid nomenclature. Recommend adding p. and moving it from biomarker to common name or alias, because the biomarker definition specifies a known association between genotype and phenotype. That is, even for variants of unknown significance the alias representation should be listed.

Current Disposition

Pending Input From Submitter

Proposed Disposition Comment

Need clarification - is this saying we should add "p." before or after the example values and change the attribute name from "name" to "commonName" or "alias"? The reasoning for the apparent name change is not clear, can submitter explain or rephrase?

Outstanding Questions

• What should the example value be?
• What should the attribute name be?
• Can the rationale be clarified?

Responses

Please add your responses here...

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