Gene Discovery
Gene discovery is the process of identifying genes that contribute to the development of a trait or phenotype. Researchers often try to discover the genes that are involved in specific diseases. They also try to find the genes that contribute to many other traits.
Gene discovery begins with clearly defining a trait of interest and determining if that trait has a genetic and/or environmental basis. This is done using several approaches, such as sibling recurrence risk ratio, familial aggregation, and twin and adoption studies. The sibling recurrence risk ratio is the frequency of a disease among the relatives of an affected person, divided by the frequency of the disease in the general population. The greater the ratio, the stronger the genetic component of the disease.
A trait also is suspected of having a strong genetic component when familial aggregation, which is the clustering of patients in a single family, occurs. Familial aggregation can sometimes be misleading, however. Since families often share the same environment, it is difficult to know whether environmental or genetic factors are the cause of clustering.
In twin studies, concordance rates play a critical role. Concordance is the percentage of second twins that exhibit a trait when the trait occurs in the first twin.
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