Glossary Term
Variant Allele Frequency
The relative rate of occurrence of a specific variant allele compared to the total number of alleles at that locus in the sample. This measurement may be reported as a ratio or percentage.
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Glossary Term
The relative rate of occurrence of a specific variant allele compared to the total number of alleles at that locus in the sample. This measurement may be reported as a ratio or percentage.
Glossary Term
Mutually exclusive alternative forms of the same gene occupying the same locus on homologous chromosomes, differing in nucleotide sequence and governing the same biochemical and developmental process.
Glossary Term
A genetic variation where gain, loss, or exchange of DNA results in monoallelic loss of function mutations in a diploid cell. In the context of tumor suppressor genes, where a single copy is sufficient for functionality, loss of function for the second allele is associated with tumorigenesis.
Glossary Term
Having two different allelic forms of a gene, one inherited from each parent, on each of the two homologous chromosomes.
Glossary Term
Having two identical allelic forms of a gene, one inherited from each parent, on each of the two homologous chromosomes.