U24HG009649

Baylor College of Medicine/Stanford University Clinical Genome Resource (ClinGen) - Project Summary/Abstract

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, aims to support our ongoing development of 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). We also aim to implement 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 the appropriate use of ancestry and diversity in clinical genomics, while simultaneously working to expand the diversity of the ClinGen workforce and users of ClinGen curated knowledge (Aim 5).

Baylor College Of Medicine

NHGRI SUPPORTS THE DEVELOPMENT OF RESOURCES AND TECHNOLOGIES THAT WILL ACCELERATE GENOME RESEARCH AND ITS APPLICATION TO HUMAN HEALTH AND GENOMIC MEDICINE. A CRITICAL PART OF THE NHGRI MISSION CONTINUES TO BE THE STUDY OF THE ETHICAL, LEGAL AND SOCIAL IMPLICATIONS (ELSI) OF GENOME RESEARCH. NHGRI ALSO SUPPORTS THE TRAINING AND CAREER DEVELOPMENT OF INVESTIGATORS AND THE DISSEMINATION OF GENOME INFORMATION TO THE PUBLIC AND TO HEALTH PROFESSIONALS. THE SMALL BUSINESS INNOVATION RESEARCH (SBIR) PROGRAM IS USED TO INCREASE PRIVATE SECTOR COMMERCIALIZATION OF INNOVATIONS DERIVED FROM FEDERAL RESEARCH AND DEVELOPMENT, TO INCREASE SMALL BUSINESS PARTICIPATION IN FEDERAL RESEARCH AND DEVELOPMENT, AND TO FOSTER AND ENCOURAGE PARTICIPATION OF SOCIALLY AND ECONOMICALLY DISADVANTAGED SMALL BUSINESS CONCERNS AND WOMEN-OWNED SMALL BUSINESS CONCERNS IN TECHNOLOGICAL INNOVATION. THE SMALL BUSINESS TECHNOLOGY TRANSFER (STTR) PROGRAM IS USED TO FOSTER SCIENTIFIC AND TECHNOLOGICAL INNOVATION THROUGH COOPERATIVE RESEARCH AND DEVELOPMENT CARRIED OUT BETWEEN SMALL BUSINESS CONCERNS AND RESEARCH INSTITUTIONS, TO FOSTER TECHNOLOGY TRANSFER BETWEEN SMALL BUSINESS CONCERNS AND RESEARCH INSTITUTIONS, TO INCREASE PRIVATE SECTOR COMMERCIALIZATION OF INNOVATIONS DERIVED FROM FEDERAL RESEARCH AND DEVELOPMENT, AND TO FOSTER AND ENCOURAGE PARTICIPATION OF SOCIALLY AND ECONOMICALLY DISADVANTAGED SMALL BUSINESS CONCERNS AND WOMEN-OWNED SMALL BUSINESS CONCERNS IN TECHNOLOGICAL INNOVATION.

93.172 - Human Genome Research

National Human Genome Research Institute (NHGRI) [HHS - NIH]

Houston, Texas 770303411 United States

Single Zip Code

Genomic Community Resources (U24 Clinical Trial Not Allowed) (PAR-20-100)

Amendment Since initial award the total obligations have increased 5179% from $500,000 to $26,395,336.