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Pathogenic: light or dark skin?

Johan T den Dunnen1

  • 1Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Human Mutation
|March 11, 2014
PubMed
Summary
This summary is machine-generated.

The term "pathogenicity" is confusing and implies disease. Researchers suggest using the neutral term "affects function" to describe genetic variants influencing phenotypes.

Keywords:
classificationdatabasegeneticsmutationpathogenicityvariant

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Area of Science:

  • Genetics
  • Molecular Biology
  • Bioinformatics

Background:

  • The term "pathogenicity" is currently used to assess if a genetic variant influences a biological outcome.
  • This term is considered non-neutral and can be misleading as it implies a disease state.

Purpose of the Study:

  • To propose a more neutral and accurate term for describing the impact of genetic variants on phenotypes.
  • To replace the term "pathogenicity" with a less ambiguous alternative.

Main Methods:

  • Literature review and conceptual analysis of existing terminology.
  • Proposal of alternative terminology for scientific discourse.

Main Results:

  • The term "pathogenicity" is identified as problematic due to its ambiguity and association with disease.
  • The term "affects function" is proposed as a neutral and precise alternative.

Conclusions:

  • Adoption of "affects function" will improve clarity and neutrality in genetic variant interpretation.
  • Standardizing terminology enhances scientific communication and understanding of genotype-phenotype relationships.