A Transparent Insight into Human Genomic Diversity

The Human Pangenome Reference Consortium has notably advanced the creation of a more inclusive human reference genome by assembling genomic sequences from 47 individuals worldwide. The original reference genome, established over two decades ago, was based on a single individual, leading to significant genetic representation limitations. The new pangenome achieves over 99% accuracy in its sequences and identifies nearly 120 million previously unseen DNA base pairs, enriching the understanding of human genetic diversity. This enhanced genome can assist researchers in linking genes to diseases, improving clinical research, and addressing health disparities.

The consortium launched in 2019 aimed to overcome the biases of prior projects, which largely relied on European genetic data. Researchers utilized the 1000 Genomes Project to source diverse samples and applied advanced sequencing techniques to clarify the complexities in parental DNA inheritance. The assembly produced 94 distinct genome sequences and highlighted structural variations that could inform common and rare diseases significantly.

As this project progresses, the consortium intends to expand its genomic references to include at least 350 individuals by mid-2024, aiming to represent historically marginalized groups and rectify past abuses in genetic research, thus fostering greater trust and better health outcomes globally.



https://instegro.net/a-transparent-insight-into-human-genomic-diversity/?fsp_sid=52332