The Clinical Genome Resource (ClinGen) is an essential community resource developing clinically relevant
genomic knowledge. Three research teams at Harvard/Geisinger, UNC/Kaiser and Baylor College of
Medicine/Stanford have worked collaboratively since 2013 to create successful frameworks and software
systems for sustained curation of the human genome. The landmark achievement in 2018 of FDA recognition
as the first Public Human Genetic Variant Database significantly increased ClinGen's prominence as an
innovative genome curation program. ClinGen's strategy has been highly successful: creating the training,
framework and oversight for international expert panels (over 1400 members), while generating dynamic user-
informed public tools including the ClinGen Curation Interfaces, Allele Registry and Linked Data Hub. This multi-
institutional application from Baylor College of Medicine and Stanford University in response to PAR-20-100
Genomic Community Resources to support our ongoing development of the innovative advanced web
technologies for software infrastructure that supports ClinGen’s gene, variant and actionability curation efforts.
In this application we seek to operate at scale, generating procedures and informatics for high-throughput
curation across ClinGen domains. We propose multiple improvements to scale our work through streamlined
aggregation and linking of genomic and phenotypic data including sources from diverse populations (Aim 1)
semi-automation for gene and variant curation (Aim 2) and actionability curation (Aim 3). We anticipate new
facets of clinical genomics including standards for variant classification in hereditary and somatic cancer, forging
novel curation approaches including curation of polygenic risk scores (PRS) and modeling curation of complex
disorders in HLA-related rheumatologic and autoimmune diseases (Aim 4). We have developed innovative
frameworks for appropriate use of ancestry and diversity in clinical genomics, while in parallel working to expand
the diversity of the ClinGen workforce and users of ClinGen curated knowledge (Aim 5).
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- The DCCPS Team.