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date: 07 July 2020

Abstract and Keywords

This chapter reviews fundamental principles of genetics and genomics as well as many of the analytic tools available to conduct genetic research. Information is presented in the context of genetic research on well-understood adult cognitive disorders. Specifically, this chapter utilizes Huntington’s disease to explain concepts related to diseases with Mendelian inheritance patterns, and it uses Alzheimer’s disease to discuss topics related to diseases with complex inheritance patterns. An array of topics are covered, including how genetic information is inherited, linkage analysis, genome-wide association, missing heritability, next-generation sequencing, epistasis, gene–environment interaction, and epigenetics. Although not fully comprehensive, the chapter does provide sufficient background that the clinician and clinical researcher can begin to competently review the human genetics literature and can effectively communicate with their genetics colleagues.

Keywords: genetics, adult cognitive disorders, Huntington’s disease, Mendelian inheritance, Alzheimer’s disease, complex traits, complex genetic diseases, gene discovery, gene–environment interactions, epigenetic mechanisms

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