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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Udgivet i:Nucleic Acids Res
Main Authors: Hoffman, Gabriel E, Bendl, Jaroslav, Girdhar, Kiran, Schadt, Eric E, Roussos, Panos
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2019
Fag:
Gene regulation, Chromatin and Epigenetics
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6847046/
https://ncbi.nlm.nih.gov/pubmed/31544924
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkz808
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