Glossary

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  • Penetrance

    The percentage of people with a disease causing mutation who show clinical features of that condition. If all individuals with a disease causing mutation show clinical features of the condition, the condition is said to have complete penetrance. If some individuals with a disease causing mutation do not show clinical features of a condition, the condition is said to have reduced or incomplete penetrance.

  • Pharmacogenetics

    Study of the role of genetics in medication response. Often used interchangeably with “pharmacogenomics.”

  • Pharmacogenomics

    Study of the genes involved in a medication response across the whole genome. Often used interchangeably with “pharmacogenetics.”

  • Phenotype

    Observable or measurable characteristics, traits, or clinical symptoms of an individual.

  • Prevalence

    The number or percent of people who have a certain disorder at a specific point in time. Prevalence describes how many people in total in a population are affected. See incidence.

  • Protein

    A chain of amino acid molecules that folds into three-dimensional shapes. Proteins are the building blocks of the human body and its functions. Proteins are the building blocks of the human body and perform important functions.

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Your genome is your entire genetic code or all of the DNA in a cell.

What My46 Means

Most human cells have 46 chromosomes that provide the genetic instructions for a body to live, grow, and develop.

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