Working Group Initiatives & Updates

Actionability

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

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 Working Group

Biocurator Working Group

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

Clinical Domain Working Groups

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

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Community Curation Committee (C3)

The Community Curation Committee (C3) provides general oversight over all community curation efforts, and coordinates and organizes the volunteer efforts.  

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Copy Number Variant Interpretation Guidelines

Copy Number Variant Interpretation Guidelines

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

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Data Exchange

Data Exchange

Provide a common set of definitions and consistent representation of core concepts, attributes and terminology to support ClinGen and harmonize with relevant standards efforts.

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Dosage Sensitivity Curation

Dosage Sensitivity Curation

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

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Education

Education

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

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EHR

EHR

Ensure that the ClinGen resource is designed to be accessible to providers and patients through electronic health record and related systems. Learn more
CADRe (Consent & Disclosure Recommendations)

CADRe (Consent & Disclosure Recommendations)

Aims to explore the ethical, legal, and social (ELSI) issues relating to reporting the actionability of particular genes/variants in the clinical care process.  Learn more
External Scientific Panel

External Scientific Panel

Scientific and technical advisors supporting ClinGen's key goals and overall mission. Learn more
Gene Curation

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

​Genomic Variant

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

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Informatics & Analysis

Informatics & Analysis

Aims to coordinate the acquisition, analysis, and dissemination of ClinGen resource data.

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Lumping and Splitting

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

Sequence Variant Inter-Laboratory Discrepancy Resolution

Resolve variants with interpretation differences in ClinVar

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Sequence Variant Interpretation

Sequence Variant Interpretation

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

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Software Alignment

Software Alignment

Centralizes communication between ClinGen’s major efforts for the purpose of understanding each of these group’s objectives, needs, and software challenges in order to align them in a manner that most effectively and efficiently supports ClinGen’s mission.

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Somatic Cancer

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

Steering Committee

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

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