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- W1536005161 abstract "The field of genetic epidemiology seeks to identify the genetic risk factors underlying human disease. First, one must assess whether the trait has an underlying genetic influence, by estimating familial relative risk and/or conducting segregation analysis. In order to discover genes influencing human disease, both family- and population-based studies are designed, and linkage and association methods are used to analyse the relationship between the trait(s) of interest and genetic markers. In general, linkage analysis is more powerful for detecting rare genes with large effects, whereas association analysis is more powerful for detecting common alleles with smaller effects. For the genetics of complex traits, additional factors must be considered, including rare variants, interactions with other genes and the environment, parent-of-origin effects and structural variants. Finally, casualty needs to be established beyond statistical implication of association with disease. Key Concepts Genetic epidemiologists design both family- and population-based studies to find genes influencing disease risk. Before conducting a gene-mapping study, one must first ascertain whether the trait is influenced by genetic effects. Linkage and association analysis are two complementary methods used to analyse the relationship between trait(s) and genetic markers. The approach used (linkage vs association) depends on the study design, and these approaches depend on the genetic parameters (rare vs common alleles and large vs small effects). Other factors – rare variants, gene–gene and gene–environment interaction, existence of structural variants and parent-of-origin effects – further complicate the search for disease genes." @default.
- W1536005161 created "2016-06-24" @default.
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- W1536005161 date "2016-11-03" @default.
- W1536005161 modified "2023-10-16" @default.
- W1536005161 title "Identifying Genes Underlying Human Inherited Disease" @default.
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- W1536005161 doi "https://doi.org/10.1002/9780470015902.a0022395.pub2" @default.
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