In a significant breakthrough, scientists have unveiled a groundbreaking “pangenome” that encompasses a broader spectrum of human genetic diversity compared to the existing reference genome. This pioneering achievement, funded by the National Institutes of Health (NIH), is poised to enhance our comprehension of genetic variations and their impact on disease severity and treatment efficacy. The research, led by a consortium, assembled genome sequences from 47 individuals, including diverse ancestries such as African, Latin American, South Asian, East Asian, and European.

The original reference genome, created two decades ago by the Human Genome Project, served as a standard for identifying genetic variants. However, owing to the inherent genetic diversity within the human species, a single reference genome fell short in capturing larger structural variations, making it challenging to accurately identify genetic markers linked to diseases.

The newly developed pangenome resembles a transit map, with distinct lines representing individual genome components. The lines overlap when sequences match and diverge where sequences differ. Published as a first draft in Nature on May 10, 2023, along with four companion papers, the pangenome demonstrates a comprehensive representation of human genetic diversity.

Comparisons with the initial complete human genome sequence released in 2022 revealed that the pangenome covers over 99% of the expected sequence on average, with more than 99% of each genome accurately assembled.