Curating the Clinical Genome 2024 ePoster Gallery-Criteria Specification Registry and Evidence Repository - Dissemination Of ClinGen Variant Curation Knowledge

Criteria Specification Registry and Evidence Repository - Dissemination Of ClinGen Variant Curation Knowledge

Pdf Summary

The Clinical Genome Resource Project (ClinGen) has established a variant classification process based on evidence criteria from ACMG/AMP standards. They have developed tools such as the Criteria Specification Registry (CSpec) and Evidence Repository (ERepo) to enhance efficiency in variant curation and classification workflows. The ERepo allows for variant curation documents to be stored in accessible formats like HTML and JSON-LD SEPIO, enabling easy dissemination of variant classifications and evidence summaries. The CSpec Registry serves as a repository of Variant Curation Expert Panel (VCEP)-defined specifications to ACMG/AMP standards, providing both human and machine-readable formats for integration into variant classification processes. This integration can be done through tools like the Variant Curation Interface (VCI) and external resources like DECIPHER and genoox.com. Through these tools, ClinGen aims to streamline the variant curation process and ensure standardized evidence criteria are applied consistently.

Keywords

Clinical Genome Resource Project

ClinGen

variant classification process

ACMG/AMP standards

Criteria Specification Registry

CSpec

Evidence Repository

ERepo

variant curation

variant classification workflows

Neethu Shah