The METHYLPREC web platform is conceived as a digital reference resource for the collection, consultation, and interpretation of DNA methylation signatures associated with rare diseases and other developmental disorders, structurally integrating relevant epigenomic, clinical, and genomic data. Its objective is to provide an accessible, dynamic, and continuously updated environment that enables clinicians, geneticists, and researchers to identify, compare, and validate described episignatures, contributing to their progressive incorporation into diagnostic practice. Currently, no similar resource exists; furthermore, it offers the advantage of dynamic visualization through custom Madrid-Plot and adapted Karyogram graphics.
This database will collect, for each episignature, standardized information regarding the associated disease or gene, phenotypic features encoded with HPO terms, CpGs associated with each disease, and the source of the information obtained. Additionally, it is designed to facilitate interoperability with other international environments and repositories, utilizing structured formats compatible with standards such as HL7/FHIR, and allowing future integration with electronic health records and other precision medicine infrastructures.
Following the model of the tools available on the CIBERER website within its platforms, the portal could be presented as a supporting infrastructure for the scientific and healthcare community, featuring clear navigation by diseases, genes, and episignatures. In this way, it would not merely be a static repository, but a functional platform for consultation, data harmonization, comparative analysis, and diagnostic decision-making support. The constant updating of the platform will be one of its defining features, incorporating newly validated episignatures and refining existing ones in terms of sensitivity and specificity.
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