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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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Vydáno v:Cell Syst
Hlavní autoři: Feiglin, Ariel, Allen, Bryce K, Kohane, Isaac S., Kong, Sek Won
Médium: Artigo
Jazyk:Inglês
Vydáno: 2017
Témata:
On-line přístup: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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