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Chapter 3. Genetics and Genomics

Elisabeth B. Binder, M.D., Ph.D.; Joseph F. Cubells, M.D., Ph.D.
DOI: 10.1176/appi.books.9781585623860.407883

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Genetics and genomics have become among the most important tools in modern psychiatric research. Spurred by the completion of the human genome sequence in February 2001, the number of psychiatric genetic studies has increased dramatically in the past two decades (Lander et al. 2001; Venter et al. 2001). The following chapter will attempt to cover the basic methodologies and concepts, and define key terms, currently used in psychiatric genetics and genomics. Our goal is to facilitate interpretation by working physicians and scientists in the field of psychopharmacology of the avalanche of genetic and genomic data that are accumulating in the human neuroscience literature. Throughout this chapter, terms in common use in the genetics and genomics literature will be italicized upon their first use and definition.

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1.
Genetic epidemiological studies have established that psychiatric disorders are quite complex and are not single-gene disorders. One reason for this complexity is that different patterns of variation within the same gene or genes can lead to similar or identical disease phenotypes. This reason is called
2.
The most frequent cytogenetic anomaly in autism spectrum disorders, occurring in approximately 1%—2% of cases, is
3.
"The sequence of alleles along an adjacent series of polymorphic sets on a single chromosome" is a definition for which of the following?
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