2023-05-17 19:10:45
Biological diversity, molecular diversity, social and cultural diversity are concepts that explain the evolution of life. The future of the human species on earth and its adaptive capacity to change depend on maintaining and increasing them. Humanity and diversity are part of the same process.
These ideas, taken at random, by the Spanish scientist Eudald Carbonell, agree with one of the latest advances in studies on the so-called code of life: the Human Pangenome. This is a new and sophisticated collection of sequences that improves the ‘standard’ genome and collects a substantially greater diversity than previously available.
According to the journal Nature, a pioneer in publishing the finding, with this first draft, which includes genomic sequences from 47 people from different parts of the world and with different ancestors (African, American, Asian and European) — that the researchers intend to increase up to 350 in the middle of the year 2024—an attempt is made to model a non-linear reference that contains the genomic variations that exist in the population.
The pangenome —adds the scientific publication— uses a graph structure (or diagram) to form the genomic variations that occur in different individuals, considering the genomic diversity of our species.
On June 26, 2000, the first draft of the human genome was published. Since then, “multiple projects have worked to improve its quality and complete said reference,” Santiago Marco Sola, from the Autonomous University of Barcelona, one of the many authors who has participated in the Pangenome, tells SINC.
Relative to the reference human genome, the Pangenome adds 119 million base pairs or ‘letters’ in DNA and 1,115 gene duplications (mutations in which a region of DNA containing a gene is duplicated), and increases the number of of structural variants detected by 104 percent, providing a more complete picture of the genetic diversity within the human genome.
“As people carry chromosomes in pairs, the current reference includes 94 different genomic sequences and the goal is to reach 700 different ones when the project ends.”
The knowledge generated from the Pangenome project will accelerate clinical research and improve understanding of the link between genes and disease traits. The use of genomics by clinicians and researchers requires a reference sequence that reflects the remarkable diversity of the human population, useful for all people, which will help reduce the chances of spreading health disparities,” underlines the co-author. and researcher Wen-Wei Liao from Yale University (USA).
“The human pangenome reference will allow us to represent tens of thousands of new genomic variants in regions of the genome that were previously inaccessible.”
Using a single reference genomic sequence for each person, says co-author Adam Phillippy of the National Human Genome Research Institute (NHGRI) can lead to inequities in genomic analyses. For example, predicting a genetic disease might not work as well for someone whose genome is most different from the reference genome.”
Taken from Cuba in Summary
Cover photo: ABC
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