Introduction to LDH

The ClinGen Linked Data Hub (LDH) facilitates efficient access to collated information such as links and select data from different data sources, which are made available to consumers using RESTful APIs. Currently, LDH focuses on linking information about human genes and variants to support ClinGen curation efforts.

Key Features

  • Provides a permanent reference for inclusion as “supporting evidence” for an ACMG evidence code.

  • Content will be exportable via RESTful APIs in JSON format.

  • Stores “data entities”, which consists of one or more of the following:
    • excerpts with attributions to external data sources
    • links to extensive information at the external data source.

  • LDH “Subject” entities are related to “Linked data” object entities.

Example of the relation between an LDH Subject and one of its Linked Data entities: “Subject” i.e. Variant - ClinGen Allele Registry identifier “CAId” has an allele molecular consequence “Linked data” object
Features in-progress

  • Augment the existing last-modified provenance metadata to support full content and provenance history tracking

  • Extend the available read-only API with access controlled write capability

  • Support formal schemas and validation:
    • Data model for each entity
    • Validation for each field
    • Models compatible with available standards (E.g. ClinGen, GA4GH, SEPIO)

  • Content and knowledge change notifications to consumers