ArticleNucleic acids research2018
EpiDenovo: a platform for linking regulatory de novo mutations to developmental epigenetics and diseases.
Article in Nucleic acids research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- CircleBase V2: an eccDNA annotation platform across cancers and species.Nucleic acids research · 2026Article
- Gene4Denovo2: an updated platform for human de novo mutations discovery and interpretation.Nucleic acids research · 2026Article
- Toti: An integrated multi-omics database to decipher the epigenetic regulation of gene expression in totipotent stem cells.Stem cell reports · 2025Article
- Review of autism spectrum disorder databases for the identification of candidate genes.Database : the journal of biological databases and curation · 2025Review
- Annotation and evaluation of base editing outcomes in multiple cell types using CRISPRbase.Nucleic acids research · 2023Article
- Comprehensive evaluation of computational methods for predicting cancer driver genes.Briefings in bioinformatics · 2022Article
- CircleBase: an integrated resource and analysis platform for human eccDNAs.Nucleic acids research · 2022Article
- OncoVar: an integrated database and analysis platform for oncogenic driver variants in cancers.Nucleic acids research · 2021Article
- Transcriptomic signatures and repurposing drugs for COVID-19 patients: findings of bioinformatics analyses.Computational and structural biotechnology journal · 2021Article
- AI-Driver: an ensemble method for identifying driver mutations in personal cancer genomes.NAR genomics and bioinformatics · 2020Article
- Somatic mutations in colorectal cancer are associated with the epigenetic modifications.Journal of cellular and molecular medicine · 2020Article
- Symphony of epigenetic and metabolic regulation-interaction between the histone methyltransferase EZH2 and metabolism of tumor.Clinical epigenetics · 2020Review
- Prevalence and architecture of posttranscriptionally impaired synonymous mutations in 8,320 genomes across 22 cancer types.Nucleic acids research · 2020Article
- Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans.Nucleic acids research · 2020Article
- Review
- OncoBase: a platform for decoding regulatory somatic mutations in human cancers.Nucleic acids research · 2019Article
Corrections and comments
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
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.
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