Scientists finalize new reference to the human genome | Science and health

Scientists from the International Human Pangemon Reference Consortium have finally put the finishing touches on a map of human genome diversity, with the finding published in four articles in the journals Nature and Nature Biotechnology on Wednesday (10).

If until today DNA was a kind of artificial sequencing, then since its completion it will be possible to analyze and compare the DNA of a specific individual with the genetic characteristics of all others, revealing details that were impossible to see until today.

Thus begins the “pangenome revolution,” which promises more accurate diagnoses and treatments.

The first mapping was done 22 years ago, as a result of the Human Genome Project, and now the new discovery allows researchers to theoretically have as real a library of genomes as humanity itself, with each individual equivalent to two volumes. And each book corresponds to a haplotype, that is, half of the genes that are inherited and located in one pair of chromosomes.

Currently, the “library” has 94 volumes, two for each of the 47 DNA from people of different races that have been drawn up for reference. The goal is to get to 350, but it’s already clear that this is a huge step forward from the first book on DNA published in 2001.

The new technology has, in fact, made it possible to update a huge amount of new letters, with 119 million new base pairs, and 1,115 mutations, as the consortium leader, Benedict Batten, of the University of California, Santa Cruz, explains in the first article.

Compared to the reference genome used over the past 20 years, denoted by the acronym GRCh38, the comprehensive comparison of 47 DNAs increased the number of variants identified by 104%, providing a more complete picture of genetic diversity.

Also involved in the research were Italians Andrea Guarcino, who works at the University of Tennessee and at Human Technopole in Milan. Vincenzo Colonna, also of Tennessee and the National Research Council (CNR) Institute of Genetics and Biophysics in Naples; and the University of Pisa, expert Musa Ngaji Mwaniki contributed.

The study that Guarracino is involved in was conducted in the lab of Erik Garrison, which also includes Colonna and doctoral student Silvia Buonaiuto (CNR). The researchers were able to observe an unprecedented mechanism whereby some types of chromosomes exchange their genetic material and which can be the source of some forms of infertility.