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罕见变异,常见标记:综合关联及其他。

Rare variants, common markers: synthetic association and beyond.

机构信息

Department of Genetics, Texas Biomedical Research Institute, San Antonio, TX 78245-0549, USA.

出版信息

Genet Epidemiol. 2011;35 Suppl 1(Suppl 1):S80-4. doi: 10.1002/gepi.20655.

Abstract

The phenomenon of synthetic association raises the possibility that common variant genetic markers may be coupled with functional rare variants sufficiently often to allow the rare variants to be tagged by the common ones. Using human exome sequence data from the 1000 Genomes Project, two investigative teams in Group 12 of Genetic Analysis Workshop 17 found that stochastic coupling between rare and common variants does occur, although perhaps not sufficiently often that we can expect common variant signals to reflect synthetic association; other teams considered methods for detecting association using both rare and common variants. Common themes were that synthetic association is more apparent in population strata (ancestral or familial) and that careful selection of the unit of analysis (gene, gene network, or other genomic subset) is likely to be crucial to the discovery of rare variants that contribute to risk of disease.

摘要

合成关联现象提出了这样一种可能性,即常见变异基因标记可能经常与功能罕见变异相关联,足以使罕见变异被常见变异标记。在第 17 届遗传分析研讨会第 12 组中,两个研究小组使用 1000 基因组计划的人类外显子组序列数据发现,稀有和常见变异之间确实会发生随机关联,尽管这种关联可能并不常见,我们不能期望常见变异信号反映出合成关联;其他小组考虑了使用罕见和常见变异来检测关联的方法。共同的主题是,合成关联在人群层次(祖先或家族)中更为明显,并且仔细选择分析单位(基因、基因网络或其他基因组子集)可能对于发现导致疾病风险的罕见变异至关重要。

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本文引用的文献

1
Capability of common SNPs to tag rare variants.常见单核苷酸多态性标记罕见变异的能力。
BMC Proc. 2011 Nov 29;5 Suppl 9(Suppl 9):S88. doi: 10.1186/1753-6561-5-S9-S88.
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Do rare variant genotypes predict common variant genotypes?罕见变异基因型能否预测常见变异基因型?
BMC Proc. 2011 Nov 29;5 Suppl 9(Suppl 9):S87. doi: 10.1186/1753-6561-5-S9-S87.
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Genetic Analysis Workshop 17 mini-exome simulation.遗传分析研讨会17小型外显子模拟
BMC Proc. 2011 Nov 29;5 Suppl 9(Suppl 9):S2. doi: 10.1186/1753-6561-5-S9-S2.

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