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The number of people with a trait or condition at a specified point in time.
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A variation in the sequence most commonly observed for a particular gene.
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The genetic make-up of an individual. |
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The observable traits or characteristics of an individual.
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Common, but minute, variations that occur in human DNA at a frequency of one every 1,000 bases.
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Concurrent detection of multiple gene variants associated with predisposition to a particular disease. |
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Refers to the use of genomic techniques to enhance drug development and define drug responses. |
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Outcome of a treatment measured as the number of years of life saved, adjusted for quality. |
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A trait or disorder that is controlled by a single gene. |
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The science of managing and analyzing biological data using advanced computing techniques; especially important in
analyzing genomic research data. |
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Inheritance of two copies of a mutant gene, one from each parent, on one of the 22 autosomes (chromosomes other than
X or Y). |
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Possessing two identical copies of a particular gene, one inherited from each parent.
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Probability that manifestations of a gene change will be seen in an individual. |
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Almost all genetic tests are performed by laboratories that have developed these tests in-house. |
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A person educated in public health or a related discipline who is employed to improve health through a population focus.
(Who Will Keep the Public Healthy? Educating Public Health Professionals in the 21st Century, IOM, 2003, p.30) |
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The presence of an extra chromosome, resulting in a total of three chromosomes of that particular type instead of the
usual pair. |
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