Integration of Multiple Epigenomic Marks Improves Prediction of Variant Impact in Saturation Mutagenesis Reporter Assay

Integrative analysis of high-throughput reporter assays, machine learning, and profiles of epigenomic chromatin state in a broad array of cells and tissues has the potential to significantly improve our understanding of non-coding regulatory element function and its contribution to human disease. He...

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Publicado no:Hum Mutat
Main Authors: Shigaki, Dustin, Adato, Orit, Adhikar, Aashish N., Dong, Shengcheng, Hawkins-Hooker, Alex, Inoue, Fumitaka, Juven-Gershon, Tamar, Kenlay, Henry, Martin, Beth, Patra, Ayoti, Penzar, Dmitry P., Schubach, Max, Xiong, Chenling, Yan, Zhongxia, Boyle, Alan P., Kreimer, Anat, Kulakovskiy, Ivan V., Reid, John, Unger, Ron, Yosef, Nir, Shendure, Jay, Ahituv, Nadav, Kircher, Martin, Beer, Michael A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6879779/
https://ncbi.nlm.nih.gov/pubmed/31106481
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23797
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