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Imputing Gene Expression in Uncollected Tissues Within and Beyond GTEx.


ABSTRACT: Gene expression and its regulation can vary substantially across tissue types. In order to generate knowledge about gene expression in human tissues, the Genotype-Tissue Expression (GTEx) program has collected transcriptome data in a wide variety of tissue types from post-mortem donors. However, many tissue types are difficult to access and are not collected in every GTEx individual. Furthermore, in non-GTEx studies, the accessibility of certain tissue types greatly limits the feasibility and scale of studies of multi-tissue expression. In this work, we developed multi-tissue imputation methods to impute gene expression in uncollected or inaccessible tissues. Via simulation studies, we showed that the proposed methods outperform existing imputation methods in multi-tissue expression imputation and that incorporating imputed expression data can improve power to detect phenotype-expression correlations. By analyzing data from nine selected tissue types in the GTEx pilot project, we demonstrated that harnessing expression quantitative trait loci (eQTLs) and tissue-tissue expression-level correlations can aid imputation of transcriptome data from uncollected GTEx tissues. More importantly, we showed that by using GTEx data as a reference, one can impute expression levels in inaccessible tissues in non-GTEx expression studies.

SUBMITTER: Wang J 

PROVIDER: S-EPMC4833292 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature

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Imputing Gene Expression in Uncollected Tissues Within and Beyond GTEx.

Wang Jiebiao J   Gamazon Eric R ER   Pierce Brandon L BL   Stranger Barbara E BE   Im Hae Kyung HK   Gibbons Robert D RD   Cox Nancy J NJ   Nicolae Dan L DL   Chen Lin S LS  

American journal of human genetics 20160331 4


Gene expression and its regulation can vary substantially across tissue types. In order to generate knowledge about gene expression in human tissues, the Genotype-Tissue Expression (GTEx) program has collected transcriptome data in a wide variety of tissue types from post-mortem donors. However, many tissue types are difficult to access and are not collected in every GTEx individual. Furthermore, in non-GTEx studies, the accessibility of certain tissue types greatly limits the feasibility and sc  ...[more]

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