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Single-nucleotide polymorphism
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==== Genome-wide association study (GWAS) ==== One of the main contributions of SNPs in clinical research is genome-wide association study (GWAS).<ref name="auto">{{Cite journal|last1=Visscher|first1=Peter M.|last2=Wray|first2=Naomi R.|last3=Zhang|first3=Qian|last4=Sklar|first4=Pamela|last5=McCarthy|first5=Mark I.|last6=Brown|first6=Matthew A.|last7=Yang|first7=Jian|date=July 2017|title=10 Years of GWAS Discovery: Biology, Function, and Translation|url=|journal=The American Journal of Human Genetics|volume=101|issue=1|pages=5β22|doi=10.1016/j.ajhg.2017.06.005|pmid=28686856|pmc=5501872|issn=0002-9297}}</ref> Genome-wide genetic data can be generated by multiple technologies, including SNP array and whole genome sequencing. GWAS has been commonly used in identifying SNPs associated with diseases or clinical phenotypes or traits. Since GWAS is a genome-wide assessment, a large sample site is required to obtain sufficient statistical power to detect all possible associations. Some SNPs have relatively small effect on diseases or clinical phenotypes or traits. To estimate study power, the genetic model for disease needs to be considered, such as dominant, recessive, or additive effects. Due to genetic heterogeneity, GWAS analysis must be adjusted for race.
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