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Identification of Datasets

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It is helpful to identify early on what potential datasets exist or can be collected. Do large families exist or are most cases apparently sporadic? Are large cohort or case–control studies available? Are there repositories of multiplex families with associated clinical data available? Are there existing clinical networks or large specialty clinics available? Is the necessary phenotype data available in a biobank linked to an existing electronic health record? The answers to these questions determine what study designs are feasible for the trait under study, as discussed in Chapters 3 and 4.

Genetic Analysis of Complex Disease

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