Draft:Pathogenic Variant
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A pathogenic variant refers to a specific genetic alteration or mutation that is associated with a disease or disorder. In the context of genetics, a variant refers to any difference in DNA sequence when compared to a reference or normal sequence. Pathogenic variants are those that have been identified as causing or contributing to the development of a particular disease or condition.
These variants can be inherited from one or both parents or can occur spontaneously (de novo) in an individual's genetic makeup. Pathogenic variants are often associated with genetic disorders, such as certain types of cancers, genetic syndromes, or inherited conditions. Identifying pathogenic variants is crucial for understanding the underlying causes of diseases, developing diagnostic tests, and exploring potential treatments or interventions. Genetic testing is often used to detect and analyze these variants in individuals who may be at risk for or affected by a genetic disorder.