Scientists from the Human Pangenome Reference Consortium (HPRC) have released a groundbreaking draft of the first human pangenome, revolutionizing genomics research. This pangenome serves as a comprehensive reference that combines the genetic material of 47 individuals from diverse ancestral backgrounds. By incorporating 119 million bases of DNA sequences not found in the existing reference genome, this new resource enables a more accurate understanding of global genomic diversity.
The previous single reference genome, derived primarily from an individual of African-European descent, posed significant limitations. Approximately 70% of its data came from this individual, making it inadequate for capturing the unique genetic variations that differentiate the world’s population. Consequently, biomedical data derived from this biased reference genome may contribute to health disparities among patients.
Recognizing the flaws of the single reference genome, researchers from the Rockefeller University and the University of California Santa Cruz (UCSC) embarked on the HPRC collaboration. Their efforts culminated in the creation of the human pangenome, which not only overcomes the limitations of the single reference genome but also provides a more comprehensive and accurate representation of human genetic diversity.
The human pangenome is presented as a linear reference in areas where the DNA sequences match, while expanding to display variations in regions where differences exist. This simultaneous representation of multiple versions of the human genome facilitates more precise comparisons and highlights variations specific to certain populations.
The successful creation of the pangenome was made possible by advanced computational techniques and the development of a pangenome graph structure. The researchers at UCSC, led by Associate Professor Benedict Paten, played a vital role in developing the algorithmic methods necessary for constructing the pangenome graph.
The pangenome draft is a significant achievement, as all genomes within it are of exceptional quality and accuracy, covering more than 99% of each individual’s genome with over 99% precision. The draft’s publication in the prestigious journals Nature and Nature Biotechnology signifies its significance for the scientific community.
Ultimately, the human pangenome represents a major step forward in genomics research, introducing diversity and equity into the reference structure. It lays the foundation for a more inclusive and representative understanding of human genetic variation, promising to enhance our knowledge of health disparities and advance personalized medicine.