100+ genomics terms, defined plainly.
The seed set below ships with launch. Each glossary entry will live at its own URL once the full set is published — captures long-tail SEO across the genomics vocabulary.
Seed set
ACMG classification
The American College of Medical Genetics framework for classifying variants from Pathogenic to Benign.
VCF file format
Variant Call Format — the standard text file emitted by variant callers.
Tumor Mutational Burden (TMB)
Number of mutations per megabase of tumor DNA — used as an immunotherapy biomarker.
Star allele
A pharmacogenomics nomenclature for haplotypes of metabolism genes (e.g. CYP2D6 *4).
ClinVar
NCBI public archive of variant interpretations submitted by clinical labs.
FHIR genomics
The HL7 FHIR profile for representing genomic test results, used by ABDM in India.
ABDM-FHIR profile
India's National Health Authority profile of HL7 FHIR for digital health interoperability.
MSI (Microsatellite Instability)
A measure of repair-deficient tumors — a key biomarker for immunotherapy response.
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