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Functional interpretation of genetic variants using deep learning predicts impact on chromatin accessibility and histone modification

Identifying functional variants underlying disease risk and adoption of personalized medicine are currently limited by the challenge of interpreting the functional consequences of genetic variants. Predicting the functional effects of disease-associated protein-coding variants is increasingly routin...

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Detalles Bibliográficos
Autores principales: Hoffman, Gabriel E, Bendl, Jaroslav, Girdhar, Kiran, Schadt, Eric E, Roussos, Panos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6847046/
https://www.ncbi.nlm.nih.gov/pubmed/31544924
http://dx.doi.org/10.1093/nar/gkz808