Work

Genetic architecture of complex disease in humans: a cross-population exploration

Year: 2012
Type: dissertation
Study design: Observational Study
Abstract: The aetiology of common diseases is shaped by the effects of genetic and environmental factors. Big efforts have been devoted to unravel the genetic basis of disease with the hope that it will help to develop new therapeutic treatments and to achieve personalized medicine. With the development of high-throughput genotyping technologies, hundreds of association studies have described many loci associated to disease. However, the depiction of disease architecture remains incomplete. The aim of this work is to perform exhaustive comparisons across human populations to evaluate pressing questions. Our results provide new insights in the allele frequency of risk variants, their sharing across populations and the likely architecture of disease
Language: English
Subfield: Genetics
Open Access status: green
OpenAlex ID: W2243074173
Cites: 98
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Related to: 10