RIYADH: A new study using Saudi and Japanese pangenome samples exclusively has revealed genetic insights relating to these two populations.
“Up to 12 percent of patients with genetic disorders go undiagnosed due to reliance on reference genomes that don’t reflect their population’s genetic background,” said Malak Abedalthagafi, professor at Tufts Medical Center and one of the lead authors of the study.
“By constructing population-specific pangenome graphs, we improve variant calling and help close this diagnostic gap.”
The pangenome is considered a powerful reference tool to study individual and group DNA.
Similar to how a map shows a person’s position in relation to their landscape, the pangenome allows researchers to compare a person’s genetic makeup with the full spectrum of genetic variation found across a population.
