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A variant of uncertain ( or unknown) significance ( VUS) is a genetic variant that has been identified through genetic testing but whose significance to the function or health of an organism is not known. [1] Two related terms are "gene of uncertain significance" (GUS), which refers to a gene that has been identified through genome sequencing ...
Anatomical variation. An anatomical variation, anatomical variant, or anatomical variability is a presentation of body structure with morphological features different from those that are typically described in the majority of individuals. Anatomical variations are categorized into three types including morphometric (size or shape), consistency ...
Genome-wide association study. In genomics, a genome-wide association study ( GWA study, or GWAS ), is an observational study of a genome-wide set of genetic variants in different individuals to see if any variant is associated with a trait. GWA studies typically focus on associations between single-nucleotide polymorphisms (SNPs) and traits ...
The term variant of concern ( VOC) for SARS-CoV-2, which causes COVID-19, is a category used for variants of the virus where mutations in their spike protein receptor binding domain (RBD) substantially increase binding affinity (e.g., N501Y) in RBD-hACE2 complex (genetic data), while also being linked to rapid spread in human populations ...
Meaning, HV.1 came from EG.5, which came from XBB, which is a form of Omicron. “It’s yet another Omicron variant,” says Thomas Russo, M.D., professor and chief of infectious disease at the ...
Once the consensus sequence is known, the mutations in a genome can be pinpointed, described, and classified. The committee of the Human Genome Variation Society (HGVS) has developed the standard human sequence variant nomenclature, [98] which should be used by researchers and DNA diagnostic centers to generate unambiguous mutation descriptions ...
A strain is a genetic variant or subtype of a microorganism (e.g., a virus, bacterium or fungus ). For example, a "flu strain" is a certain biological form of the influenza or "flu" virus. These flu strains are characterized by their differing isoforms of surface proteins. New viral strains can be created due to mutation or swapping of genetic ...
Penetrance. Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene ( genotype) that also expresses an associated trait ( phenotype ). In medical genetics, the penetrance of a disease -causing mutation is the proportion of individuals with the mutation that exhibit clinical symptoms among all ...