New Human Reference Genome Resources Help Capture Global Genetic Diversity

Scientists have assembled a set of genetic sequences that enable the reference genome to better reflect global genetic diversity. The new sequences improve the utility of the human reference genome, a touchstone resource for modern genetics and genomics research, and these sequences were presented at the American Society of Human Genetics (ASHG) 2019 Annual Meeting in Houston, Texas. The presentation was titled “Constructing a Reference Genome That Captures Global Genetic Diversity for Improved Interpretation of Whole Genome Sequencing Data,” and the abstract is available online at When the Human Genome Project was completed in 2003, its signature achievement was the human reference genome, a set of DNA sequences that serves as a structure and representative example of the complete set of human genes. For areas of the genome where there is little variation among different people, the reference genome is an important resource that has helped move forward efforts in gene sequencing, genome-wide association studies, and protein characterization. Because almost all genetic sequencing experiments rely on the human reference genome, there is a pressing need to improve the reference to better capture the diversity found in different human populations, explained Karen Wong (photo), BS, a graduate student in Professor Pui-Yan Kwok’s laboratory at the University of California, San Francisco (UCSF), who presented the research. A more representative reference would benefit scientists using the millions of existing sequencing datasets, as well as future sequencing studies.
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