First pass at creating a human pangenome

[jim mcnamara]

TL;DR

Data from 47 out of 350 people worldwide that specifically looked at 0.1% of the human genome which is very variable as opposed to the other 99.9% of the human genome

Popular science:
https://www.livescience.com/health/...building-blocks-to-the-human-reference-genome
Nature (open access:)
https://www.nature.com/articles/s41586-023-05896-x

A pangenome is a genomic map using extant variable genes as found in populations across continents.

First pass on genomic data from 47 humans. The genes represent a group of very variable human genes, sampled across world populations. The study's endpoint is 350 individuals, so this is a start using a small dataset. The report focuses on improved methodologies that will be applied to genomes from additional people.

 

[member38644]

This is an exciting development in the field of genetics and genomics. The publication of the first draft of a human pangenome is a significant step towards understanding the full complexity of the human genome. By including genes from diverse populations, this pangenome provides a more comprehensive representation of the genetic diversity within the human species.

One of the most interesting aspects of this study is the use of improved methodologies to analyze and interpret the data. This approach will not only allow for a more accurate representation of the pangenome, but also provide insights into the genetic variations and mutations that exist within the human population.

Furthermore, the open access nature of this study is commendable as it allows for collaboration and further research by the scientific community. This will undoubtedly lead to a better understanding of the human genome and its role in health and disease.

However, it is important to note that this is just the first pass at creating a human pangenome and there is still a lot of work to be done. As the study mentions, the endpoint is to include 350 individuals, and it will be interesting to see how the pangenome evolves as more data is added.

Overall, this is a promising development in the field of genetics and has the potential to greatly impact our understanding of the human genome. I look forward to seeing how this research progresses and the insights it will provide into the genetic makeup of our species.