V体育安卓版 - 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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AI and Automation Working Group
The ClinGen Artificial Intelligence and Automation Working Group (AIA WG) is established to strategically evaluate, guide, and implement the use of artificial intelligence (AI) and automation technologies to enhance the efficiency, consistency, and scalability of ClinGen鈥檚 efforts. We will foster innovation while ensuring data integrity, transparency, and the ethical use of these technologies across all ClinGen activities VSports app下载.
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ClinGen Community Curation (C3)
The mission of the ClinGen Community Curation WG (C3) 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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Clinical Domain Working Groups
Curate clinical validity and clinical features of gene/phenotype pairs within distinct clinical domains
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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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Curated Disease Entity
The Curated Disease Entity (CDE)聽WG focuses on harmonizing curation products related to monogenic diseases within ClinGen鈥檚 curation activities (gene/variant/actionability/dosage), as well as between ClinGen and other entities (e V体育ios版. g. , Mondo, OMIM).
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Data Access, Protection, and Confidentiality
The Data Access, Protection and Confidentiality (DAPC) Working Group is a multi-disciplinary team of scholars and professionals with expertise in clinical curation, data sharing policies, ethical and legal frameworks, software development, and clinical genetics practice.
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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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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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HLA Working Group
The HLA Working Group聽was established to create an HLA-specific curation framework for ClinGen聽and to develop a tool for聽HLA-related聽disease聽and pharmacogenomic (PGx) curations.
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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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