EpigenCentral: Portal for DNA methylation data analysis and classification in rare diseases
| Autor: | Andrei L. Turinsky, Pouria Mashouri, Michael Brudno, Sanaa Choufani, Da Liu, Daniel Min, Rosanna Weksberg, Kevin N. Lu |
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| Rok vydání: | 2020 |
| Předmět: |
Data Analysis
0303 health sciences Autism Spectrum Disorder 030305 genetics & heredity Cancer dNaM Computational biology Biology DNA Methylation medicine.disease Molecular diagnostics 3. Good health Epigenesis Genetic 03 medical and health sciences Rare Diseases Epigen Autism spectrum disorder DNA methylation Genetics medicine Humans Aberrant DNA Methylation Epigenetics Genetics (clinical) 030304 developmental biology |
| Zdroj: | Human mutationREFERENCES. 41(10) |
| ISSN: | 1098-1004 |
| Popis: | Epigenetic processes play a key role in regulating gene expression. Genetic variants that disrupt chromatin-modifying proteins are associated with a broad range of diseases, some of which have specific epigenetic patterns, such as aberrant DNA methylation (DNAm), which may be used as disease biomarkers. While much of the epigenetic research has focused on cancer, there is a paucity of resources devoted to neurodevelopmental disorders (NDDs), which include autism spectrum disorder and many rare, clinically overlapping syndromes. To address this challenge, we created EpigenCentral, a free web resource for biomedical researchers, molecular diagnostic laboratories, and clinical practitioners to perform the interactive classification and analysis of DNAm data related to NDDs. It allows users to search for known disease-associated patterns in their DNAm data, classify genetic variants as pathogenic or benign to assist in molecular diagnostics, or analyze patterns of differential methylation in their data through a simple web form. EpigenCentral is freely available at http://epigen.ccm.sickkids.ca/. |
| Databáze: | OpenAIRE |
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