Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA.
Nat Genet. 2012 May;44(5):603-8. doi: 10.1038/ng.2248.
RNA profiling can be used to capture the expression patterns of many genes that are associated with expression quantitative trait loci (eQTLs). Employing published putative cis eQTLs, we developed a Bayesian approach to predict SNP genotypes that is based only on RNA expression data. We show that predicted genotypes can accurately and uniquely identify individuals in large populations. When inferring genotypes from an expression data set using eQTLs of the same tissue type (but from an independent cohort), we were able to resolve 99% of the identities of individuals in the cohort at P(adjusted) ≤ 1 × 10(-5). When eQTLs derived from one tissue were used to predict genotypes using expression data from a different tissue, the identities of 90% of the study subjects could be resolved at P(adjusted) ≤ 1 × 10(-5). We discuss the implications of deriving genotypic information from RNA data deposited in the public domain.
RNA 谱分析可用于捕获与表达数量性状基因座 (eQTL) 相关的许多基因的表达模式。我们利用已发表的假定顺式 eQTL,开发了一种基于 RNA 表达数据的贝叶斯方法来预测 SNP 基因型。我们表明,预测的基因型可以准确且唯一地识别大群体中的个体。当使用相同组织类型的 eQTL 从表达数据集推断基因型(但来自独立队列)时,我们能够在 P(调整)≤1×10(-5)时解析队列中 99%的个体身份。当使用来自一种组织的 eQTL 从不同组织的表达数据预测基因型时,在 P(调整)≤1×10(-5)时可以解析 90%的研究对象的身份。我们讨论了从公共领域中存储的 RNA 数据中得出基因型信息的意义。