Many rare developmental disorders are caused by variants in genes that write, read, or erase DNA methylation, and such a variant leaves a reproducible pattern of altered methylation across the genome of the affected person. A pattern of this kind is called an episignature, and because it can be measured in a blood sample it is used in diagnostics to decide whether a variant of uncertain significance is really the cause of a patient's condition.
This collection holds the CpG positions that published episignatures are built from, and the genes and regions tested by a clinical episignature test. It currently contains three tracks:
| Track | Description |
|---|---|
| MethaDory | CpG probes of the published episignatures compiled for the MethaDory classifier, covering more than 100 disorders from 74 studies |
| EpigenCentral | CpG probes of the 24 episignatures curated by the EpigenCentral portal, covering 23 disorders |
| EpiSign | causative genes and copy-number regions of the more than 170 disorders detected by the EpiSign clinical test, plus the imprinted regions and the FMR1 promoter it tests directly |
The two sets were compiled independently and overlap heavily but neither contains the other, so a CpG site can appear in one, the other, or both.
Each track in this collection can be configured separately. See the description page of the individual track for its colors, filters, and item details.
The description page of each track in this collection explains how to download the underlying file and how to intersect it with other annotations.