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EpiDenovo: a platform for linking regulatory de novo mutations to developmental epigenetics and diseases

De novo mutations (DNMs) have been shown to be a major cause of severe early-onset genetic disorders such as autism spectrum disorder and intellectual disability. Over one million DNMs have been identified in developmental disorders by next generation sequencing, but linking these DNMs to the genes...

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Detalles Bibliográficos
Autores principales: Mao, Fengbiao, Liu, Qi, Zhao, Xiaolu, Yang, Haonan, Guo, Sen, Xiao, Luoyuan, Li, Xianfeng, Teng, Huajing, Sun, Zhongsheng, Dou, Yali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5753195/
https://www.ncbi.nlm.nih.gov/pubmed/29040751
http://dx.doi.org/10.1093/nar/gkx918