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The DNA sequence of an organism or individual, which determines (along with environmental influences) the specific characteristics (phenotype) of that organism or person.

Use in clinical context

Although everyone’s genome is unique, some parts will be the same. Individuals that have the same genetic variants within a gene have the same genotype at that gene/locus. These genotypes can be passed on through generations contributing to the inheritance of phenotypes in families, including health conditions such as familial hypercholesterolaemia and familial breast cancer.

Last updated on 31st May, 2019