Preserving the vestiges of a disappearing world is part of human nature. In the world of biology, this collection and classification impulse translates into an effort to understand life around us and, perhaps, also into an opportunity to save it. Thus various

Noah's coffers

are at work all over the world: in Norway, the Svalbard Global Vault protects thousands of seeds of crop plants; in Washington, the Smithsonian National Zoo stores 16,000 frozen milk samples from about 180 species; In the Florida Keys, the Coral Restoration Foundation maintains the world's largest collection of these structures, with more than 400 different types.

One of the most ambitious initiatives in this regard is the Vertebrate Genome Project (VGP), which aims to read the complete genome of all creatures with a backbone or backbone.

The initiative has just been published in the journal

Nature

their first results, the complete and high-quality genomes of 25 species.

Among them are the large horseshoe bat, the Canada lynx, the platypus or species in serious danger of extinction such as the vaquita marina (a cetacean endemic to Baja California) or the kakapo parrot (a native bird of New Zealand).

These first complete genomes are already generating new discoveries, with implications for understanding biodiversity and contributing to both nature conservation and human health.

"These 25 genomes represent a fundamental milestone, we are learning much more than we expected," explains Erich Jarvis, neurogenetics specialist at Rockefeller University and president of the VGP.

For example, the study includes the first high-quality reference genomes of six bat species, which provide information on the selection and loss of immunity-related genes, a key element in research on the transmission of zoonotic viruses, such as the SARS-CoV-2.

Genomic comparison

"Reading a genome is easy, but understanding what each piece is for is not", points out Tomàs Marquès-Bonet, principal investigator in the Comparative Genomics group of the Institute of Evolutionary Biology (IBE), and member of the Steering Committee of the VGP project. "This article shows that the time has come to generate hundreds of genomes, with the repercussions that this can have on biomedicine thanks to genomic comparison."

The VGP flagship study published in

Nature

represents one of the largest efforts for standardization in the field of genomics; a collaboration of more than 50 institutions from 12 different countries whose origins date back to the beginning of this century. "So sequencing was closely linked to humans and diseases," says Marquès-Bonet, a member of the founding group of the initiative. "But we also wanted to apply it to vertebrates, the animals closest to us." Thus, the scientists considered the possibility of sequencing 10,000 animals.

The first efforts to sequence animal genomes were plagued with errors, in addition to having a very high economic cost that no one wanted to assume.

The methods weren't up to the task, leading to bad assemblies, large data gaps, and other errors.

"There were regions that were very difficult to read, you assembled the genome and found fragments in which there was no way of knowing where they could fit," recalls Marquès-Bonet.

Advances

However, the introduction of new sequencing technologies in recent decades has allowed thousands of letters to be read, rather than a few hundred. Likewise, better assembly tools on individual chromosomes make it possible to determine which genes have been inherited from each parent. This solves an especially thorny problem known as

false duplication

, in which scientists mislabel the maternal and paternal copies of the same gene as two different genes. In addition, costs were reduced and results improved. "For us, these new ways of reading the genome are like going from a tube television to a 4k one", summarizes Marquès-Bonet.

Thus, the original Genoma 10K initiative was expanding its ambition and adding international participation, including the IBE, a joint center of the Higher Council for Scientific Research (CSIC) and the Pompeu Fabra University (UPF). "Although the sequencing has been carried out primarily at the Rockefeller University (USA), the Wellcome Sanger Institute (UK) and the Max Planck (Germany) we have all contributed" explains Marquès-Bonet, "for example there are many fragments that have been generated in the National Center for Genomic Analysis ". The article published in

Nature

-together with a series of complementary works that appear in other journals- makes the VGP the model to be followed by other similar initiatives, such as the Earth BioGenome Project, the Darwin Tree of Life project, the Catalan Initiative for the Earth Biogenome Project or the European Reference Genome Atlas.

Conservation

The project also has the vocation of saving species that are about to disappear. "Studying species that are going extinct is a very important moral duty," says Jarvis. In an article published in the journal

Cell Genomics,

researchers from the University of Otago (New Zealand) describe the study of the genes of a captive-bred female kakapo parrot, one of the last of its species. The work reveals that the last population of kakapos, isolated in New Zealand for the last 10,000 years, has somehow avoided deleterious mutations, which should manifest as a result of low genetic diversity. Along the same lines, another work published in

Molecular Ecology Resources

observes a similar finding in the case of the vaquita porpoise, of which it is estimated that there are between 10 and 20 individuals left on the planet.

An Ana's hummingbird ('Calypte anna'). ADOBESTOCK

"That means there is hope to conserve these species," concludes Jarvis.

Because the plan is not only to collect the information of the genomes, but also to preserve it for the future, when scientists have more advanced techniques.

For now, the VGP will focus on sequencing new species;

the next step is to finish 260 genomes with representation from all orders of vertebrates.

Having worked with thousands of animals found in zoos and laboratories, scientists can then address the difficulties inherent in obtaining other samples, especially rare or endangered species.

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