Strategies for Imputing and Analyzing Rare Variants in Association Studies.
Strategies for Imputing and Analyzing Rare Variants in Association Studies.
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DOI：
10.1016/j.tig.2015.07.006
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发表时间：
2015-10
期刊：
影响因子：
--
通讯作者：
Witte JS
中科院分区：
文献类型：
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作者：
Hoffmann TJ;Witte JS
罕见的遗传变异可能是许多疾病潜在的大量未表征的遗传风险的原因。描述罕见变异的疾病负担的一种有效方法可能是将其输入现有的大型数据集。众所周知，插补罕见变异的能力取决于阵列选择和参比样本组中携带该变异的个体数量，尽管目前尚不清楚插补对罕见变异的准确效果。我们在这里回顾了在插补罕见变异时出现的额外挑战，查看能够插补罕见变异的研究，合并参考面板背后的方法，插补罕见变异的方法以及分析罕见变异的方法。
Rare genetic variants may be responsible for a significant amount of the uncharacterized genetic risk underlying many diseases. An efficient approach to characterizing the disease burden of rare variants may be to impute them into existing large datasets. It is well-known that the ability to impute a rare variant is dependent both on the array choice and number of individuals in the reference panel carrying that variant, though it is still unclear exactly how well imputation will work for rare variants. We review here the additional challenges that arise when imputing rare variants, looking at studies that have been able to impute rare variants, methods behind merging reference panels, approaches for imputing rare variants, and methods for analyzing rare variants.