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Molecular Diagnostics

Definition
AI-generated

Molecular diagnostics detect or quantify nucleic acids, proteins, or other molecular analytes to inform disease classification, infection, pharmacogenomics, or monitoring—spanning PCR, hybridization, sequencing, and multiplex panels.

Why it matters in GWAS

Association studies depend on consistent molecular measurement (genotyping, imputation, WGS quality) and on phenotypes that may be defined by diagnostic labels derived from molecular tests; pharmacogenomic GWAS links germline variation to drug response phenotypes that laboratories later operationalize as assays.

Example usage

"Molecular diagnostics confirmed the pharmacogenomic allele before starting the high-risk drug."

References

  • Grody WW, et al. (2008). ACMG statement on laboratory diagnosis of molecular genetic diseases. Genet Med.

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