Clinical Genome Resource receives global recognition

The Clinical Genome Resource (ClinGen) knowledge base is among the Global Core Biodata Resources (GCBRs) announced today by the Global Biodata Coalition (GBC), a forum for research funders to better coordinate and share approaches for the efficient management and growth of biodata resources worldwide. Baylor College of Medicine and Stanford University hold one of three National Institutes of Health grants that support the development of the ClinGen Resource.

The GBC recognizes these GCBRs as resources whose long-term funding and sustainability is critical to life science and biomedical research worldwide. The GCB notes that GCBRs represent the most crucial components or nodes within the global life science data infrastructure. A key property of the GCBRs is that the data they hold is available openly and can be accessed and used without restriction by researchers the world over.

Baylor and Stanford have been participating in the NIH-funded ClinGen since its beginning in 2013. The goal is to build publicly available resources to support the growth of clinical genomics. ClinGen develops and implements standards and tools to support clinical classification, shares genomic and disease data between clinicians, researchers and patients, facilitates expert review of the clinical relevance of genes and variants, and disseminates resources to the broader community.

“It is gratifying to see ClinGen’s work recognized by this new global initiative. In particular, from ClinGen’s beginning, the Baylor team has supported the work in the genetics of cancer with over 10 international expert panels focused on hereditary and somatic cancer,” said Dr. Sharon Plon, principal investigator of the Baylor ClinGen project and professor of pediatrics – hematology and oncology and molecular and human genetics at Baylor.

Dr. Aleksandar Milosavljevic, principal investigator of the Baylor ClinGen project, Bioinformatics Research Laboratory director and Henry and Emma Meyer Chair in Molecular Genetics at Baylor, and his team have developed key elements of the ClinGen infrastructure, including Allele Registry, Evidence Repository, Criteria Specification Registry and Linked Data Hub.

“The Allele Registry enables real-time creation of universal IDs for variants, meaning a given variant can be uniquely referenced by its ID. The Linked Data Hub aggregates supporting evidence for variants’ pathogenicity according to gene- and disease-specific criteria in the Criteria Specification Registry. The Evidence Repository enables sharing of evidence for or against pathogenicity, or the disease association, of variants, along with guideline-based conclusions about their pathogenicity,” Milosavljevic said.

Dr. Teri Klein is the principal investigator from Stanford University of the ClinGen project.

Plon holds the Dan L Duncan Comprehensive Cancer Center Professorship at Baylor. She also is co-leader of the pediatrics cancer program at the Duncan Cancer Center and director of the Cancer Genetics and Genomics Program at Texas Children’s Hospital. Milosavljevic is director of the Program in Quantitative and Computational Biosciences, co-director of the Computational and Integrative Biomedical Research Center and member of the Dan L Duncan Comprehensive Cancer Center at Baylor.

Other Baylor team members involved in this project include Andrew R. Jackson, Kevin Riehle, Neethu Shah, Anton V. Kodochygov, Tierra R. Farris, Arturo Alejandro Zuniga, Keyang Yu, Matthew E. Roth, Deborah Ritter, Sheng-An Yang, Farid Ali, Shashikant Kulkarni and William Craigen.

Read GBC’s announcement here and find more about Baylor’s work with the ClinGen Resource here.