Gene Curation

The Gene Curation Workgroup aims to develop evidence-based methods for evaluating gene-disease associations to support gene curation activities across the ClinGen project. 


  1. Establish a framework for assessing the evidence necessary to determine if a gene causes a particular disease (clinical validity).
  2. Develop standards for gene curation, and define the types and amounts of evidence necessary to support an association between a gene and a particular disease.
  3. Provide guidance and specifications to the ClinGen application development team for the creation of an interface to support gene curation activities.
  4. Oversee ClinGen gene curation activities, and support the needs of the Clinical Domain Working Groups as they curate domain-specific gene-disease pairs.

Projects & Initiatives

  • Gene-Disease Clinical Validity Classification Framework

    The Gene Curation Working Group Members have developed a tiered framework for assessing the evidence that supports or refutes any claimed associations between genes and genetic disorders.  The “clinical validity” of gene-disease associations is organized into tiers, with accompanying evidence, that can be transparently and systematically evaluated.  These tiers of clinical validity can then be used to prioritize genes for analysis in various clinical contexts.  
  • Clinical Validity Curation Spreadsheet

    The Excel spreadsheet below can be used as a guide when collecting and documenting evidence to assess the clinical validity of a gene-disease pair. 
  • Gene-Disease Clinical Validity Scoring Metric

    This semi-quantitative scoring metric guides curators in assigning preliminary clinical validity classifications.
  • Clinical Validity Classification Summaries

  • Gene-Disease Clinical Validity SOP

    Members of the ClinGen Gene Curation working group have developed a detailed standard operating procedures (SOP) document for those wanting to utlize our gene curation process.

Leadership & Members

Jonathan Berg, MD, PhD
Principal Investigator, “A Knowledge Base for Clinically Relevant Genes and Variants" (U01 Grant)
Christa Lese Martin, PhD, FACMG
Principal Investigator, "Unified Clinical Genomics Database" (U41 Grant)