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Article

Comprehensive Analysis of Tissue-wide Gene Expression and Phenotype Data Reveals Tissues Affected in Rare Genetic Disorders.

Cell systems - 23 Aug 2017

Feiglin Ariel, Allen Bryce K, Kohane Isaac S, Kong Sek Won

Abstract excerpt

Linking putatively pathogenic variants to the tissues they affect is necessary for determining the correct diagnostic workup and therapeutic regime in undiagnosed patients. Here, we explored how gene expression across healthy tissues can be used to infer this link. We integrated 6,665 tissue-wide transcriptomes with genetic disorder knowledge bases covering 3,397 diseases. Receiver-operating characteristics (ROC)...

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Identifiers

PMID: 28822752
DOI: 10.1016/j.cels.2017.06.016
PMCID: PMC5928498

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