Jeddah: A new study by researchers at King Abdullah University of Science and Technology (KAUST), Tufts University, and the Japan Institute for Health Security (JIHS) provides pangenome graphs of Saudi and Japanese populations.
According to Saudi Press Agency, the information gained is expected to benefit precision medicine and clinical genetics for these underrepresented populations in pangenome databases.
"Up to 12% of patients with genetic disorders go undiagnosed due to reliance on reference genomes that do not reflect their population's genetic background. By constructing population-specific pangenome graphs, we improve variant calling and help close this diagnostic gap," said Tufts Medical Center's Department of Pathology and Laboratory Medicine Chair Professor Malak Abedalthagafi, one of the lead authors of the study.
"Having worked on the Saudi genome for several years, contributing to this project marks a meaningful step in my commitment to advancing representation in genomics and ensuring precision medicine serves diverse populations," she added.
KAUST Professor Robert Hoehndorf, another author of the study and member of the KAUST Center of Excellence for Smart Health, explained that building the graphs, which the study calls JaSaPaGe (Japanese Saudi PanGenome), using samples from two distinctive populations provides an opportunity to study the impact of differences between the reference used and the population studied, offering new health insights.
"Japan and Saudi Arabia are pretty much at the opposite ends of Asia and have been separated for a long time. It gave us a chance to study the effects of population-specific pangenome graphs on variant calling when populations do not match," he said.
Yosuke Kawai of the JIHS and another author of the study added that there are clinical benefits to be gained for the two populations.
"The joint development of a population-specific pangenome graph for the Japanese and Saudi Arabian populations addresses a critical gap in global genomic representation. By integrating diverse data from both countries, we have created a powerful resource that not only improves variant detection accuracy but also holds great potential for advancing precision medicine tailored to each population's unique genetic landscape," he said.