Abstract
Genome-wide association studies (GWAS) between common sequence variation and phenotypic variation were recently performed for a large number of human phenotypes. This was possible due to the discovery of the common variation in human populations, the development of technologies for large-scale and inexpensive genotyping, and the collection of very large number of well-phenotyped samples. GWAS were successful in identifying low risk alleles in candidate genes or loci. More importantly, these studies disclosed unexpected molecular pathways for different common, multifactorial disorders and traits, thereby providing new working hypotheses. Yet, the current clinical utility of these findings remains limited.
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Beckmann, J.S., Antonarakis, S.E. (2010). Lessons from the Genome-Wide Association Studies for Complex Multifactorial Disorders and Traits. In: Speicher, M.R., Motulsky, A.G., Antonarakis, S.E. (eds) Vogel and Motulsky's Human Genetics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-37654-5_10
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DOI: https://doi.org/10.1007/978-3-540-37654-5_10
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