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.
Topics
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¶
Related terms¶
References¶
- Grody WW, et al. (2008). ACMG statement on laboratory diagnosis of molecular genetic diseases. Genet Med.
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