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Machine Learning Prediction of Non-Coding Variant Impact in Human Retinal cis-Regulatory Elements

PURPOSE: Prior studies have demonstrated the significance of specific cis-regulatory variants in retinal disease; however, determining the functional impact of regulatory variants remains a major challenge. In this study, we utilized a machine learning approach, trained on epigenomic data from the a...

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Detalles Bibliográficos
Autores principales: VandenBosch, Leah S., Luu, Kelsey, Timms, Andrew E., Challam, Shriya, Wu, Yue, Lee, Aaron Y., Cherry, Timothy J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034719/
https://www.ncbi.nlm.nih.gov/pubmed/35435921
http://dx.doi.org/10.1167/tvst.11.4.16

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