@inproceedings{a39673f76ceb4b499f781ae491cfc56a,
title = "Association of C>U RNA editing with human disease variants",
abstract = "RNA-editing is an important post-transcriptional RNA sequence modification performed by two catalytic enzymes, {"}ADAR{"}(A>I) and {"}APOBEC{"}(C>U). Although APOBEC-mediated C>U editing has been associated with a number of human cancers, the extent of C>U editing in human disease remains unclear. Here, we performed an association study and found that at least 1293 human disease variants occur at sites predicted by sequence motif analysis (RNASee protocol) to undergo APOBEC3A/G C>U editing. These variants were associated with a wide array of human disease conditions ranging from cancer, metabolic disorders, retinopathies, cardiomyopathies, neurodegenerative disorders and immunodeficiencies. These results indicate that APOBEC mediated C>U RNA editing may have widespread and previously unreported contributions to human disease conditions..",
keywords = "Cytidine deaminase, Protein diversity, RNA-editing",
author = "Sapan Mandloi and Zackary Falls and Rong Deng and Ram Samudrala and Elkin, \{Peter L.\}",
note = "Publisher Copyright: {\textcopyright} 2020 European Federation for Medical Informatics (EFMI) and IOS Press.; 30th Medical Informatics Europe Conference, MIE 2020 ; Conference date: 28-04-2020 Through 01-05-2020",
year = "2020",
month = jun,
day = "16",
doi = "10.3233/SHTI200364",
language = "English",
series = "Studies in Health Technology and Informatics",
publisher = "IOS Press",
pages = "1205--1206",
editor = "Pape-Haugaard, \{Louise B.\} and Christian Lovis and Madsen, \{Inge Cort\} and Patrick Weber and Nielsen, \{Per Hostrup\} and Philip Scott",
booktitle = "Digital Personalized Health and Medicine - Proceedings of MIE 2020",
}