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Explore essential clinical genomic databases and resources in this 50-minute lecture from the Medical and Population Genetics Primer series at the Broad Institute. Learn about ClinGen, ClinVar, and other critical clinical genomic resources that support genetic research and clinical decision-making. Discover how these databases organize and curate genetic variant information, understand their role in clinical genetics workflows, and gain practical knowledge about accessing and interpreting data from these platforms. Examine the structure and functionality of ClinGen's expert curation process, delve into ClinVar's variant classification system, and explore additional clinical genomic resources that complement these primary databases. Understand the importance of standardized variant interpretation guidelines and learn how these resources facilitate evidence-based clinical genetics practice. Gain insights into data submission processes, quality control measures, and the collaborative nature of clinical genomic data sharing that makes these resources valuable for researchers, clinicians, and genetic counselors working in human genetics and precision medicine.
Syllabus
MPG Primer: ClinGen, ClinVar and other Clinical Genomic Resources (2025)
Taught by
Broad Institute