Working Groups

Actionability

Aims to identify those human genes that, when significantly altered, confer a high risk of serious disease that could be prevented or mitigated if the risk were known.

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Ancestry and Diversity

The Ancestry and Diversity Working Group (ADWG) works to ensure that genomic medicine is effective to everyone, regardless of race, ethnicity or ancestral background.

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Biocurator

The ClinGen Biocurator WG provides a forum for education, training, and support for all ClinGen gene and variant biocurators, and currently has a membership of over 100 curators.

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Clinical Domain Working Groups

Curate clinical validity and clinical features of gene/phenotype pairs within distinct clinical domains

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Community Curation

The mission of the Community Curation Working Group is to engage, identify, and communicate with potential ClinGen volunteers, and to facilitate the organization and placement of volunteers in curation efforts.

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Complex Disease

How do we assess the validity of published risk scores and provide guidance (ie. a framework) for future studies?

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Copy Number Variant Interpretation Guidelines

Develop a systematic framework for the clinical interpretation of cytogenomic copy number variants.

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Data Platform

Support ClinGen goals by developing an integrated system of software products using harmonized data standards across teams and workstreams.

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Dosage Sensitivity Curation

Evaluate the evidence supporting or refuting the dosage sensitivity of individual genes and genomic regions.

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Education, Coordination and Training

Aims to foster community engagement in all aspects of the ClinGen project through education, training, outreach, and resource development.

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EHR

Ensure that the ClinGen resource is designed to be accessible to providers and patients through electronic health record and related systems.

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External Scientific Panel

Scientific and technical advisors supporting ClinGen's key goals and overall mission.

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Gene Curation

Develop evidence-based methods for evaluating gene-disease associations to support gene curation activities across the ClinGen project.

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Genomic Variant

Guide improvement and enhancement of the sequence variant guidelines and support standardization of copy number interpretation.

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Lumping and Splitting

The Lumping and Splitting Working Group provides guidance for defining and refining disease entities for gene-disease classifications and partners with nosological and ontological authorities for the coordination of disease entity categorization and classification.

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Sequence Variant Inter-Laboratory Discrepancy Resolution

Resolve variants with interpretation differences in ClinVar.

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Sequence Variant Interpretation

Guide improvement and enhancement of the ACMG/AMP Interpreting Sequence Variant Guidelines.

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Somatic Cancer

The Cancer Somatic Workgroup is responsible for ensuring the appropriate annotation and interpretation of cancer somatic variants for clinical applications and development of practice guidelines.

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Steering Committee

Provides oversight, guidance, and executive decisions regarding the activities and direction of the ClinGen Resource.

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