The Researchers Identified 126,018 Human Genetic Variations

The Researchers Identified 126,018 Human Genetic Variations

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The researchers identified 126,018 human genetic variations. A team of scientists from the Wellcome Sanger Institute, Francis Crick Institute, and EMBL-EBI have created a comprehensive atlas of structural diversity for geographically diverse sets of human genomes missing from the human genome sequence and for recovered sequences. Among the 126,018 structural variations the team discovered were medically important genes in the Oceanian population that Neanderthals inherited from Deniovans, a sister group.

Almarri et al have presented a comprehensive analysis of structural variation in the Human Genome Diversity Panel, a high coverage data set of 911 samples from 54 diverse populations worldwide, and a total of 126,018 variants, 78% of which are global. They were not identified in. Sequencing projects.

Almarri et al presented a comprehensive analysis of structural variation in the Human Genome Diversity Panel, a high-coverage dataset of 911 samples from 54 diverse populations worldwide, and a total of 126,018 variants, 78% of which were global in the past. They were not identified in Sequencing projects.

Structural changes are genetic changes that can involve anywhere from a few to millions of DNA base pairs. They contribute significantly to genetic diversity and are important and clinically important, but are still understood. Until now, most large-scale genetic studies have generally focused on changes that affect individual DNA base pairs.

Researcher Mohammed Almari of the Welcome Sanger Institute and colleagues first sequenced the 911 genomes of geographically, linguistically and culturally diverse populations around the world, and now discovered structural variations in these sequences.

The sequences were compared to the human reference genome to produce a list of structural variants that were unknown by more than three-quarters. Scientists then investigated how common these structural variations are in each of the 54 populations, and which one was inherited from Neanderthals or Denisovans.

Among the 126,018 structural changes discovered are the clinically significant variations inherited from Denisovans in the Ossanian population of Papua New Guinea, including a high-frequency deletion in the AQR gene, which detects viruses and regulates the antiviral immune response. Play a role in.

“By analyzing the genome of a large population, we can find high-frequency structural changes that have not been exposed by previous large-scale sequencing projects,” said Almarry. “Many of these are in clinically important genes, which tell us how a population has evolved to resist a certain disease or why they may be susceptible to others.”

“This is important knowledge and will help ensure that treatments can be tailored to each specific population.” The team highlighted other notable structural variations that, combined with existing knowledge of human evolution and the role of specific genes, shed light on how individual populations have evolved.

Curitians living in modern Brazil were found to be mutating the MGAM gene, which affects starch digestion. Their diet is derived from fishing, hunting, and agriculture, so reducing starch digestion is possibly harmful, and therefore surprising. It is believed that bad luck may have concentrated this variation on the small population that survived the population collapse in the past 5,000 years.

The authors also discovered the novel ‘fugitive repeats’, where populations have evolved to carry multiple copies of the gene. For example, all African populations included in the study carried multiple copies of the HPR gene, which is associated with resistance to sleeping sickness.

The highest number of copies, up to 9, was reported by populations in Central and West Africa, where the disease is more prevalent. “This is a very valuable study showing the importance of structural variation of the human genome in the genetic diversity of humans worldwide,” said Dr. Ed Hollox, a researcher at the University of Leicester who was not involved in the study. .

The work supports the concept that some human adaptations to different environments are caused by the loss or gain of whole genes or parts of genes. Structural variation can be difficult to find, and this study also provides a well-established structural variation reference set that will serve as a springboard for imports.

The team highlighted other notable structural variations that, combined with existing knowledge of human evolution and the role of specific genes, shed light on how individual populations have evolved. Curitians living in modern Brazil were found to be mutating the MGAM gene, which affects starch digestion.

Their diet is derived from fishing, hunting, and agriculture, so reducing starch digestion is possibly harmful, and therefore surprising. It is believed that bad luck may have concentrated this variation on the small population that survived the population collapse in the past 5,000 years.

The authors also discovered the novel ‘fugitive repeats’, where populations have evolved to carry multiple copies of the gene. For example, all African populations included in the study carried multiple copies of the HPR gene, which is associated with resistance to sleeping sickness.

“This is a very valuable study showing the importance of structural variation of the human genome in the genetic diversity of humans worldwide,” said Dr. Ed Hollox, a researcher at the University of Leicester who was not involved in the study. .

“The work supports the concept that some human adaptations to different environments are caused by the loss or gain of whole genes or parts of genes. Structural variation can be difficult to find, and this study also provides a well-established structural variation reference set that will serve as an important springboard for future studies.

The results appear in the journal cell.

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