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The study design process includes all clinical, molecular, bioinformatics, and analytic components of your study. A study population must be defined, as well as the process for selecting individuals from that population for study participation (ascertainment) and criteria for identifying individuals exhibiting the trait of choice (phenotype definition). One must determine the molecular technology to be used (e.g. genome‐wide association study versus rare variant gene burden testing) as well as establish the electronic process for storing and retrieving the clinical and molecular data, and the analysis methods to be used. Finally, one must ensure all ethical, legal, and social issues are addressed. Each component in the study design process should be given careful consideration, as the decisions one makes at each step will impact the conclusions that can be drawn from the results. Furthermore, many of the decisions in the study design process are inter‐related. For example, the ascertainment process will impact the analysis methods that can be performed. Since many of the steps in the study design process are covered in detail in other chapters of the book, they will not be discussed further here. Only the process of selecting a study population and an ascertainment scheme will be covered in this chapter and expanded upon in Chapter 4.