What did you reveal? They have decoded the first complete sequence of the human genome

21 years ago to know I managed to map about 92% of human genesThat was a revolution in biology and medicine but what happened to the remaining 8%? Now, a scientific team has been able to examine it, thus achieving the first sequence The complete human genome. Our new “seamless” map DNA It reveals hidden regions important to understanding genetic diseases, reproduction, human diversity, and even the evolution of our species: “Really sequencing the human genome was like putting on new glasses,” summarizes researcher Adam Philip.

After most of this sequence was revealed in 2003 by the Human Genome Project, nearly two decades later, the T2T Consortium team, standardized by an international group of scientists, has uncovered the rest of the remaining cell nuclei that compose it. DNA.

This discovery, which was published in the journal “Science”, will facilitate the understanding of human evolution and open the door to medical discoveries in multiple fields. His fascination with this discovery is that he considers this work to be a before-and-after milestone in the field of medicine and genetics.

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“Really completing the sequencing of the human genome was like putting on new glasses,” summarizes researcher Adam Felipe, who was part of this research.

Detrás de este hito científico está el Consorcio T2T (Telómero a Telómero), con más de 100 investigadores liderados por Phillippy, del Instituto Nacional de Investigación del Genoma Humano (NHGRI), y Uni Karen Migada, de la Cruz California United State.


Researchers involved in genome sequencing. Photo: EFE

The description of these missing pieces was first published in May 2021 in the bioRxiv repository – without review by other researchers. Now is when it is collected in six articles in Science, and in twelve supplementary writings in other scientific publications.

What is a genome?

The genome is a complete set of instructions for an organism, a book written with groups of only four chemical units designated by the letters A, T, C and G (adenine, thymine, cytosine and guanine); These are called nucleotide bases.

For humans, this instruction manual contains about 3 billion base pairs (or letters), which are located in the 23 pairs of chromosomes within the nucleus of all cells. Sequencing means determining their exact arrangement in a segment of DNA.

It’s been two decades since the first draft of the human genome, carried out separately by Celera Genomics and the Human Genome Project, and that 8% were unable to be sequenced in large part because they consisted of regions too repetitive to align with the rest and with each other. Current technology, which is able to simultaneously read hundreds of thousands of messages from the genome, has made it possible to do so.

What is the medical significance?

“The parts of the genome that we haven’t been able to study for more than 20 years are important for understanding genome functioning, genetic disease, human diversity, and evolution,” Mega says.

“In the future, when a person’s genome is sequenced, we will be able to identify all the variants in their DNA and use this information to better guide their medical care,” Felipe says in an NHGRI note. We are one step closer to understanding what all this means.”

For José Manuel Bautista, Professor of Molecular Biology at the Complutense University of Madrid, this work – in which he is not involved – allows us to discover a part of chromosomes closely related to their function; “It’s like we found out 20 years later that the cars we see have a clutch and that there are gear changes.”

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“Knowing the bits that make biological machines work that have to do with genetic transmission allows us to understand elements of human biological history and discover some of the mechanisms that may be relevant to reproduction,” the scientist highlights.

This first complete sequence covering each chromosome from start to finish, without gaps and with unprecedented precision, is available to the entire scientific community.

T2T has now joined the All-Human Genome Reference Consortium, which aims to create a new human genome reference based on the complete genome sequences of 350 individuals, which is more representative of human diversity.

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