June 21, 2023
Although the human genome was completely mapped in 2022, marking a major milestone for science and medicine, the original reference genome lacked representation of the global human population.
Scientists have developed a new “pangenome” that provides a more diverse reference for the human genome. The pangenome incorporates genetic material from 47 individuals of African, Asian, American, and European ancestry. This new resource is expected to uncover hidden genetic mutations and enhance understanding of biology.
The implications of the pangenome for future research are significant. Although human genomes are mostly identical, the small differences can have a significant impact on individuals. The pangenome will enable researchers to identify genetic variations that contribute to diseases more accurately, leading to improved diagnoses and potential treatments. Additionally, it may offer insights into cancer risk and help identify new therapeutic approaches for genetic diseases.
While the pangenome’s current version is still limited in representing the full diversity of the human population, ongoing research aims to expand its scope. Future iterations of the pangenome will include genetic material from 150 regions worldwide, providing a more comprehensive reference for genomic studies. The development of the pangenome is considered a significant milestone, with further advancements expected in the field of genomics.
Source: CBC News
Read more: https://www.cbc.ca/news/science/genome-sequence-diversity-medical-1.6871909