Scientists announced that they had sequenced the genomes of 47 people from around the world. , which allows scientists to look at what is normal and what is not in people and learn more about what genes do and what diseases genetic problems can cause.
Scientists on Wednesday unveiled a new description of the human genome that improves upon its predecessor by including a rich diversity of people to better reflect the global population — boosting ongoing efforts to identify the genetic underpinnings of disease and new ways to treat it.
This “pangenome” achievement was announced two decades after the first human genome was sequenced, a feat that transformed biomedical research by providing scientists with a reference map for analyzing DNA for clues about disease-related mutations.
A new summary of the genome may help clarify the contribution of genetic variation to health and disease, improve genetic testing and guide drug discovery. This could be of particular importance for understanding neurodevelopmental disorders such as schizophrenia, autism, macrocephaly and microcephaly, as well as drug metabolism.
The work, led by the Human Pangenome Reference Consortium, an international scientific consortium funded by the US government’s National Human Genome Research Institute (NHGRI), was essentially a reboot of the previous effort and addressed a key shortcoming – the inability to represent the genetic variation present among the world’s 8 billion people.
Previous work had significant gaps and was based mostly on a single person’s DNA. The new work is a collection of near-perfect genome assemblies for 47 people of different ancestries and an alignment of those individual genomes to show which parts match and which differ. Calling it a first draft, the researchers aim to increase the number of people featured in the data to 350 by mid-2024.
“The pangenome is not just one reference genome, but a whole collection of different genomes. By comparing these genomes, we can then map not just one individual, but an entire population of different variations,” said UC Santa Cruz genomicist Benedict Paten, co-leader of the consortium and lead author of the published lead research article. in the journal Nature.
This collection contained the genomes of people including those originating from Africa, East Asia, South Asia, Europe, North America, South America and the Caribbean, though not yet Oceania.
“Bottom line – what we’re doing is remaking genomics to create a diverse, inclusive representation of human variation as an underlying frame of reference, thereby mitigating bias. This is important if we want everyone to benefit equally from our research,” said Paten.
The genome is the genetic blueprint of an organism – in this case a human – and contains the information needed for development and growth. But each person’s genome differs slightly—about 0.4% on average—from other people. These genetic differences can shed light on a person’s health, help diagnose disease, craft treatments and predict medical outcomes.
“By creating high-quality, near-complete references, we’re getting a better picture of how some of the most complex regions of the genome vary. Until now, the composition of these rapidly evolving regions has been largely invisible to us,” said Paten
In 2003, researchers uncovered what was billed as the complete sequence of the human genome, although about 8% of it has not been fully deciphered. This reference genome was a mosaic of about 20 people, including 70% from one individual of mixed European and African ancestry. The first complete human genome, based on a single European individual, was published last year after scientists filled in the gaps.
Our species, Homo sapiens, originated in Africa about 300,000 years ago and later spread throughout the world.
“Human ancestry is incredibly complex, and we are all related to each other through our shared history,” said Ira Hall, director of the Yale Center for Genomic Health and one of the leaders of the research. “And by sampling so broadly across the human genetic tree, everyone benefits.” Even if a particular group is not explicitly included, it still represents our common ancestry and provides common benefits.”
The cost of supporting the consortium will be about $40 million over five years, NHGRI said, which is less than the multibillion-dollar cost of the 2003 genome project thanks to technological advances.
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