Shifting paradigm of association studies: Value of rare single-nucleotide polymorphisms
Shifting paradigm of association studies: Value of rare single-nucleotide polymorphisms
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DOI：
10.1016/j.ajhg.2007.09.006
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发表时间：
2008-01-01
影响因子：
9.8
通讯作者：
Amos, Christopher I.
中科院分区：
文献类型：
--
作者：
Gorlov, Ivan P.;Gorlova, Olga Y.;Amos, Christopher I.
目前，在常见人类疾病的病例 - 对照关联研究中，优先使用次要等位基因频率（MAF）>5%的单核苷酸多态性（SNPs）。近期的技术发展使得能够对数千例病例和对照中的大量SNP进行低成本且准确的基因分型，这能够为分析具有MAF的SNP提供足够的统计效力。
Currently, single-nucleotide polymorphisms (SNPs) with minor allele frequency (MAF) of >5% are preferentially used in case-control association studies of common human diseases. Recent technological developments enable inexpensive and accurate genotyping of a large number of SNPs in thousands of cases and controls, which can provide adequate statistical power to analyze SNPs with MAF