Genetic regulatory variation in populations informs transcriptome analysis in rare disease

Transcriptome data can facilitate the interpretation of the effects of rare genetic variants. Here, we introduce ANalysis of Expression VAriation (ANEVA) to quantify genetic variation in gene dosage from allelic expression (AE) data in a population. Application of ANEVA to the Genotype-Tissues Expre...

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Detalhes bibliográficos
Publicado no:Science
Main Authors: Mohammadi, Pejman, Castel, Stephane E., Cummings, Beryl B., Einson, Jonah, Sousa, Christina, Hoffman, Paul, Donkervoort, Sandra, Jiang, Zhuoxun, Mohassel, Payam, Foley, A. Reghan, Wheeler, Heather E., Kyung Im, Hae, Bonnemann, Carsten G., MacArthur, Daniel G., Lappalainen, Tuuli
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6814274/
https://ncbi.nlm.nih.gov/pubmed/31601707
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.aay0256
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