Human genome reset better represents global population 2023

On Wednesday, scientists released a new human genome accounting that includes a rich range of people to better represent the worldwide population, aiding attempts to find genetic causes of illnesses and novel treatments.

Two decades after the first human genome sequencing, this “pangenome” discovery gave scientists a map to scan DNA for disease-related mutations, transforming scientific research.

The new genome breakdown may elucidate how genetic diversity affects health and illness, enhance genetic testing, and direct medication discovery. It may help explain schizophrenia, autism, macrocephaly, microcephaly, and drug metabolism.

The international Human Pangenome Reference Consortium of scientists funded by the U.S. National Human Genome Research Institute (NHGRI) rebooted the previous effort to represent the genetic variations of the world’s 8 billion people.

Homo sapiens originated in Africa 300,000 years ago and expanded globally.

Previous study was incomplete and relied on one person’s DNA. The new study includes almost complete genome assemblies for 47 persons of varied ancestries and an alignment to illustrate which portions match and which diverge. The researchers want to add 350 people by mid-2024 to this first draft.

A pangenome is a collection of various 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 group and senior author of the primary study publication published in Nature.

This collection included African, East Asian, South Asian, European, North American, South American, and Caribbean genomes, but not Oceania.

Bottom line—we’re retooling genomics to establish a varied, inclusive representation of human variation as the core reference structure, minimizing prejudice. If we want our research to help everyone, Paten said this is crucial.

Human genomes carry development and growth information. However, everyone’s genome differs by 0.4%. Genetic variations can help diagnose, treat, and predict medical consequences.

“By building very high-quality, almost 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 fast-evolving regions has been largely invisible to us,” Paten added.

In 2003, researchers announced the whole human genome sequence, however 8% of it remained still unsolved. About 20 people contributed to the reference genome, including 70% from a mixed European-African person. Last year, scientists completed the first human genome from a single European.

“Human ancestry is incredibly complex, and we’re all related through our common history,” said Ira Hall, director of the Yale Center for Genomic Health and a research leader.

Thus, sampling extensively throughout the human genetic tree helps everyone. Even if a group isn’t formally mentioned, it nevertheless represents our common roots and benefits.”

NHGRI said the consortium will cost $40 million over five years, less than the multibillion-dollar 2003 genome effort due to technology breakthroughs.

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