The pangenome includes the genetic instruction books of 47 people:
More than 20 years after people got a peek at the first draft of the human genome, our genetic instruction book, researchers have unlocked the next level: the human pangenome.
In four studies published May 10 in Nature, researchers describe the achievement, how the pangenome was built and some of the new biology scientists are learning from it.
The more complete reference book, which includes almost all the DNA of 47 people, will allow researchers to explore types of variation that could never be examined before, such as large chunks of duplicated, lost or rearranged DNA. That work could possibly reveal more details about the genetic underpinnings of heart diseases, schizophrenia and various other diseases and disorders.
The pangenome adds 119 million DNA bases — the information-carrying units of DNA — not present in the existing human genome, called the reference genome. Much of that DNA is in never-before-explored parts of the genome containing multiple copies of genes that are duplicated from originals elsewhere in the DNA.
[...] Some of these duplicated regions include ones implicated in humans' large brains relative to other species and other traits that set humans apart from other primates. Others have been implicated in certain traits or diseases.
[...] But perhaps the biggest achievement of the pangenome project is that it is finally giving researchers a more complete look at the full spectrum of human genetic diversity.
[...] Past genetics research has been criticized for relying too heavily on DNA from people of European heritage. Studying just one population of people could mean missing genetic variants that have arisen in specific populations, O'Connor says. "Having a pangenome reference allows us to assess that population-specific variation in a much more detailed way. And hopefully, that will then lead to greater insight into the biology of everyone."
While the pangenome is a great first step to better represent all human genetic diversity, O'Connor says, "it still is missing key groups in the world. It's still underrepresenting Latin Americans and Indigenous Americans, and ... there's nobody included from Oceania.... There's still a lot more variation that needs to be added to the pangenome to really, truly be representative of everyone."
Added diversity is coming, human geneticist Karen Miga of the University of California, Santa Cruz said during a May 9 news conference. The consortium plans to complete a total of 350 genomes, including these 47, by mid-2024. The first phase of the project was aimed at developing the technology to build the pangenome.
[...] Researchers hope the pangenome will help them more easily diagnose the genetic changes that contribute to rare diseases and find treatments for common disorders, he says. Once that happens, clinicians may start incorporating data from the pangenome in their practices.
(Score: 2) by Barenflimski on Wednesday May 17, @02:35AM (2 children)
Of course one would use the pangenome.
If you weren't using the pangenome, you need to catch up bruh. Whack.
(Score: 0) by Anonymous Coward on Wednesday May 17, @03:18AM (1 child)
Next step, sequence the microbiome (gut bacteria and other microorganisms we all host) from a bunch of people that eat different diets. Then try to sort out which ones are helpful and which are not...
(Score: 0) by Anonymous Coward on Wednesday May 17, @04:39AM
I went to learn about the gut biom while living high in the rainforests of Guatemala. By the end of our time there we could tell which diets were helpful just by the smell of peoples farts. Nama-stay brother.