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Statistical significance in genetic association studies

机译:遗传关联研究的统计意义

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摘要

Clinical & Investigative Medicine (CIM) is receiving an increasing number of reports of candidate-based association studies. The track record of such studies in the past has been poor: numerous genetic associations reported from candidate gene studies have not been replicated in later studies.1 The rise of the genome-wide association study (GWAS) is changing this situation. A well-designed GWAS may identify a number of candidate loci without bias by screening the whole human genome. Validating and fine-mapping the candidate loci from GWAS are required to clarify the genetic mechanisms.
机译:临床与调查医学(CIM)收到越来越多的基于候选人的关联研究报告。过去此类研究的往绩不佳:候选基因研究报告的许多遗传关联在以后的研究中均未复制。1全基因组关联研究(GWAS)的兴起改变了这种情况。精心设计的GWAS可以通过筛选整个人类基因组而无偏倚地确定多个候选基因座。需要验证和精细映射来自GWAS的候选基因座,以阐明遗传机制。

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