Ontology highlight
ABSTRACT:
SUBMITTER: Mao F
PROVIDER: S-EPMC5753195 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Mao Fengbiao F Liu Qi Q Zhao Xiaolu X Yang Haonan H Guo Sen S Xiao Luoyuan L Li Xianfeng X Teng Huajing H Sun Zhongsheng Z Sun Zhongsheng Z Dou Yali Y
Nucleic acids research 20180101 D1
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 developmental diseases occur in the early stages of development or during childhood, it is cru ...[more]