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.

A GWAS (genome-wide association study) is a way for scientists to identify inherited genetic variants associated with risk of disease or a particular trait. This method surveys the entire genome for genetic polymorphisms, typically single nucleotide polymorphisms (SNPs) (pronounced “snips”), that occur more frequently in cases (people with the disease or trait being assessed) than in controls (people without the disease or trait). Also called genome-wide association study.