A pangenome reference includes genetic material from multiple individuals, representing the genetic diversity of the human population. It goes beyond a single individual or a composite genome and provides a more comprehensive understanding of genetic variation.
The pangenome reference currently includes the genetic material of 47 individuals from various locations worldwide. Pangenomes are particularly relevant in human genomics, where genetic variations across diverse populations can play a crucial role in disease susceptibility, drug response, and personalized medicine. The construction and analysis of pangenomes can help identify rare or population-specific variants, elucidate the functional consequences of genetic variations, and improve the accuracy of genetic testing and diagnosis.