Working Group Initiatives & Updates

Curation
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. Learn more
Clinical Domains

Clinical Domains

Curate clinical validity and clinical features of gene/phenotype pairs within distinct clinical domains Learn more
Gene Curation

Gene Curation

Develop evidence-based methods for evaluating gene-disease associations to support gene curation activities across the ClinGen project.  Learn more
​Genomic Variant

​Genomic Variant

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

Phenotyping

Support the collection and submission of phenotypic data to ClinGen-related resources.  Learn more
Sequence Variant Interpretation

Sequence Variant Interpretation

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

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Education
Education, Engagement & Counseling

Education, Engagement & Counseling

Aims to foster community engagement in all aspects of the ClinGen project through education, outreach, and resource development Learn more
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
Information Technology
Data Model

Data Model

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

Informatics & Analysis

Aims to coordinate the acquisition, analysis, and dissemination of ClinGen resource data. Learn more
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. Learn more
Advisory
External Scientific Panel

External Scientific Panel

Scientific and technical advisors supporting ClinGen's key goals and overall mission. Learn more
Steering Committee

Steering Committee

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

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Policy
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