Human genome reboot better reflects global population
The Hindu
Scientists unveiled a new accounting of the human genome that improves on its predecessor by including a rich diversity of people to better reflect the global population
Scientists on Wednesday unveiled a new accounting of the human genome that improves on its predecessor by including a rich diversity of people to better reflect the global population - a boost to ongoing efforts to identify genetic underpinnings of diseases and new ways to treat them.
This "pangenome" achievement was announced two decades after the first sequencing of the human genome, a feat that transformed biomedical research by giving scientists a reference map to analyze DNA for clues about disease-related mutations.
The new genome rundown may help clarify the contribution of genetic variation to health and disease, improve genetic testing, and guide drug discovery. It could be of particular value in understanding neurodevelopmental disorders such as schizophrenia, autism, macrocephaly, and microcephaly, as well as drug metabolism.
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The work, led by the international Human Pangenome Reference Consortium of scientists funded by the U.S. government's National Human Genome Research Institute (NHGRI), essentially was a reboot of the prior effort and solved a key deficiency - a failure to represent the genetic variations present among the world's 8 billion people.
The previous work had significant gaps and was based largely on a single person's DNA. The new work is a collection of nearly perfect genome assemblies for 47 people of diverse ancestries and an alignment of those individual genomes to show which parts match and which differ. Calling this a first draft, the researchers intend to increase the number of people reflected in the data to 350 by mid-2024.
"A pangenome is not just one reference genome, but a whole collection of diverse genomes. By comparing those genomes we can then build a map of not just one individual, but a whole population of variation," said University of California, Santa Cruz genomicist Benedict Paten, co-leader of the consortium and senior author of the main research paper published in the journal Nature.