Curating the Clinical Genome 2024 ePoster Gallery-The ClinGen Variant Curation Interface and Linked Data Hub Support Data Standards in Variant Curation

The ClinGen Variant Curation Interface and Linked Data Hub Support Data Standards in Variant Curation

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The document discusses the ClinGen Variant Curation Process, which involves biocurators selecting variants and evaluating evidence through the Variant Curation Interface (VCI). Final classifications are disseminated via ClinVar and the ClinGen Evidence Repository. The VCI provides various tab views to display variant information from different sources. The integration of the Linked Data Hub (LDH) with VCI aims to display REVEL metapredictor scores, transcript information, and MANE status of the transcript, enhancing access to key information. Data standardization is supported by using unique variant identification systems, cross-referencing evidence, and adhering to FAIR principles. Collaborations with organizations like GA4GH and SEPIO help establish data standards. The LDH ecosystem incorporates gnomAD v4.1 population data, enabling users to query and access allele frequency information along with other data like gene constraint scores. Future enhancements include displaying more gnomAD v4.1 data in the VCI through the LDH, ensuring data accessibility and standardization for variant curation processes.

Keywords

ClinGen Variant Curation Process

Variant Curation Interface

ClinVar

ClinGen Evidence Repository

Linked Data Hub

REVEL metapredictor scores

FAIR principles

GA4GH

SEPIO

gnomAD v4.1