NCI Dictionary of Genetics Terms

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Welcome to the NCI Dictionary of Genetics Terms, which contains technical definitions for more than 150 terms related to genetics. These definitions were developed by the PDQ® Cancer Genetics Editorial Board to support the evidence-based, peer-reviewed PDQ cancer genetics information summaries.

In classical genetics, an individual who carries one deleterious allele for an autosomal recessive disorder. In clinical discussions, may refer to an individual who carries a deleterious allele that predisposes to disease.