Description
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. It currently
contains two 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 |
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.
Display Conventions and Configuration
Each track in this collection can be configured separately. See the description page of the
individual track for its colors, filters, and item details.
Data Access
The description page of each track in this collection explains how to download the underlying
file and how to intersect it with other annotations.