A special issue of the journal Human Mutation contains 25 papers related to the activities of the National Human Genome Research Institute-funded Clinical Genome Resource program (ClinGen) and ClinVar, a large database supported by the National Center for Biotechnology Information. ClinGen was launched in 2013, including leading faculty from Baylor College of Medicine playing key roles in developing and advancing the program.

“This special issue is evidence of some of the impactful research that has resulted from ClinGen and its partnership with ClinVar and will provide publicly available resources to inform research and access to genomic variant data,” said Dr. Sharon Plon, co-editor of the special issue and professor of pediatrics-oncology at Baylor. “The special issue reflects this involvement, with Baylor researchers contributing to many of the papers and discoveries highlighted.”

Baylor’s Drs. Ronak Patel and Aleksandar Milosavljevic and colleagues report on the ClinGen Allele Registry (reg.clinicalgenome.org). “The Allele Registry enables real-time creation of universal IDs for variants, meaning a given variant can be uniquely referenced by its ID and evidence related to that variant can be appropriately catalogued across various platforms or databases,” said Patel, instructor of molecular and human genetics in the Milosavljevic lab at Baylor, who also will be presenting this research at the upcoming American Society of Human Genetics meeting.

ClinGen also contributes to research looking at expanding the use of cancer genetic data for germline, or blood, variant analysis and classification, as well as studies to examine other uses of cancer data. 

“The discovery of variations in genes in tumor samples has been critical to the understanding of how cancer develops and spreads, and how to effectively treat it. To enhance the use of this information in research and clinical practice, ClinGen developed a standard way to catalog gene mutations in cancers,” said Dr. Deborah Ritter, research scientist in pediatrics at Baylor.

ClinGen has assembled several expert panels to help develop the needed specifications for individual genes or diseases to improve our ability to accurately assess whether genetic changes found in patients are associated with disease. For example, Dr. William Craigen, professor of molecular and human genetics and member of the Dan L Duncan Comprehensive Cancer Center at Baylor, contributes as an expert on the new metabolic disorders expert panel, which aims to improve classification of genetic changes found in children with metabolic disorders.

“This special issue of Human Mutation will highlight for the genetics community our ongoing research to develop authoritative sources of clinical genetics that is publicly available to them. ClinGen and ClinVar are filling a critical need in the substantial challenge of gathering data and connecting it with the community for use in supporting genomic medicine and research,” said Plon, who also is a professor of molecular and human genetics and co-leader of the pediatric cancer program in the Dan L Duncan Comprehensive Cancer Center at Baylor.