Washington, May 11 (BNA): Scientists have unveiled a new computation of the human genome that improves on its predecessor by including a rich diversity of people to better reflect the world’s population — a boost to ongoing efforts to identify the genetic underpinnings of diseases and new ways to treat them.
Declared a “pangenome” two decades after the first human genome was sequenced, the feat changed biomedical research by giving scientists a reference map to analyze DNA for clues about disease-related mutations.
The new genome listing may help clarify the contribution of genetic variation to health and disease, improve genetic testing, and guide drug discovery. It could be particularly valuable in understanding neurodevelopmental disorders such as schizophrenia, autism, microcephaly, and microcephaly, as well as drug metabolism, according to Reuters.
The work, which was led by the International Human Pangenome Review Consortium of Scientists and funded by the US government’s National Human Genome Research Institute (NHGRI), was essentially a reboot of the previous effort and solved a major flaw — a failure to represent the genetic differences that exist among the world’s 8 billion population.
Previous work had major gaps and was based largely on the DNA of a single person. The new work is a collection of nearly perfect genome assemblies of 47 individuals with diverse ancestry and an alignment of those individual genomes to show which parts are identical and which parts are different. Calling this a first draft, the researchers intend to increase the number of people reflected in the data to 350 by mid-2024.
UC Santa Cruz genomicscientist Benedict Patten, co-chair of the consortium and senior author of the lead paper published in the journal Nature, said.
This group comprises the genomes of people including those of African, East Asian, South Asian, European, North American, South American, and Caribbean descent, though not yet Oceanian.
“Bottom line – what we’re doing is retooling genomics to create a diverse and inclusive representation of human diversity as the primary reference structure, thereby mitigating bias. This is important if we want our research to benefit everyone equally,” Patten said.
The genome is the genetic blueprint of an organism – in this case a human – and contains information needed for development and growth. But everyone’s genome differs slightly – about 0.4% on average – from other people’s. These genetic variations 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 get a better picture of how some of the more complex regions of the genome differ. Until now, the composition of these rapidly evolving regions has been largely invisible to us,” he said.
In 2003 researchers revealed what was described as the complete sequence of the human genome, although about 8% of it has not been fully decoded. This reference genome was a mosaic from about 20 individuals, including 70% from a single 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 approximately 300,000 years ago and later spread around the world.
“Human ancestry is incredibly complex, and we are all connected by our shared history,” said Ira Hall, director of the Yale Center for Genomic Health and one of the research leaders. “And so by sampling widely across humanity’s genetic tree, it benefits everyone. Even if a particular group is not explicitly included, it still represents our common ancestry and provides common benefits.”
The NHRI said the cost of supporting the consortium would be about $40 million over five years, less than the billions of dollars spent for the 2003 Genome Project thanks to advances in technology.
WWA