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

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 tr...

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Bibliographische Detailangaben
Veröffentlicht in:Cell Syst
Hauptverfasser: Feiglin, Ariel, Allen, Bryce K, Kohane, Isaac S., Kong, Sek Won
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2017
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5928498/
https://ncbi.nlm.nih.gov/pubmed/28822752
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cels.2017.06.016
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