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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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Dades bibliogràfiques
Publicat a:Science
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: 2019
Matèries:
Accés en línia: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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