Article
EpiDenovo: a platform for linking regulatory de novo mutations to developmental epigenetics and diseases.
Nucleic acids research - 4 Jan 2018
Mao Fengbiao, Liu Qi, Zhao Xiaolu, Yang Haonan, Guo Sen, Xiao Luoyuan, Li Xianfeng, Teng Huajing, Sun Zhongsheng, Dou Yali
Abstract excerpt
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 that they impact remains a challenge, as the majority of them are embedded in non-coding regions. As most...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.