Unknown

Dataset Information

0

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


ABSTRACT: 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 crucial to clarify the details of epigenetic regulation in early development in order to interpret the mechanisms underlying developmental disorders. Here, we develop EpiDenovo, a database that is freely available at http://www.epidenovo.biols.ac.cn/, and which provides the associations between embryonic epigenomes and DNMs in developmental disorders, including several neuropsychiatric disorders and congenital heart disease. EpiDenovo provides an easy-to-use web interface allowing users rapidly to find the epigenetic signatures of DNMs and the expression patterns of the genes that they regulate during embryonic development. In summary, EpiDenovo is a useful resource for selecting candidate genes for further functional studies in embryonic development, and for investigating regulatory DNMs as well as other genetic variants causing or underlying developmental disorders.

SUBMITTER: Mao F 

PROVIDER: S-EPMC5753195 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature

altmetric image

Publications

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

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]

Similar Datasets

| S-EPMC6016744 | biostudies-literature
| S-EPMC5912909 | biostudies-literature
| S-EPMC4385182 | biostudies-literature
| S-EPMC5972584 | biostudies-literature
| S-EPMC5673604 | biostudies-literature
| S-EPMC4850890 | biostudies-literature
| S-EPMC6382467 | biostudies-literature
| S-EPMC2698247 | biostudies-other
| S-EPMC7145562 | biostudies-literature
| S-EPMC5575942 | biostudies-literature