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Eva Novoa, leader of the Epitranscriptomics and RNA Dynamics research group at the Center for Genomic Regulation (CRG) in Barcelona, works with nanopores, the same third-generation sequencing techniques that have allowed an international consortium to obtain the first human genome full. She considers it a “milestone.”
—What do these 2,000 new genes tell us that we didn’t know before?
—The sequence that was missing has been determined, but that is not the same as knowing its function. It will take years to achieve it with certainty. The important thing is that it is a big step to better understand our genome and its diseases.
—Why has this 8% of the genome taken so long to complete?
—Because here the sequences are repeated many times
times consecutively. They are called low-complexity zones, but they can be very important because there are diseases like Huntington’s in which the number of repetitions determines whether you are sick or healthy. Second-generation technologies, like Illumina, didn’t reveal them because they cut the DNA into tiny bits. When you were trying to assemble the puzzle, you didn’t know how many to put. However, new technologies allow long stretches of DNA to be sequenced, which means a better reconstruction of the genome.
-What applications will it have?
—We will be able to discover mutations that could not be observed before, simply because there was nowhere to map them. On the other hand, it will surely also make it possible to discover the genetic cause of some inherited neurodegenerative diseases whose genetic cause is currently not understood, such as some types of amyotrophic lateral sclerosis (ALS).
“He’s revolutionary.
-Yes. For me, the great utility that this advance will have is being able to carry out personalized medicine studies. Having a complete map of the genome is a milestone, it will really open a new era. We will understand the structural variations. For example, in cancer, we can compare a person who suffers from it with a healthy one. It turns out that instead of having red-red-green, you have red-green-red, and that is the cause of the disease.
—The study gives valuable information about the centromeres, why are they so important?
—They hold chromosomes together during cell division. It is important to understand their sequence, how many repeats they have and how they work because errors and aberrations in chromosome separation are known to cause cancer and miscarriage.
“This is the last complete human genome?”
“This is the complete genome of a person. You cannot know the variation that exists in humanity with a single genome, many more have to be sequenced with the same technique, telomere by telomere. It will be done in the future, because it is becoming easier and cheaper (today you can get it for a thousand euros) and then we will be able to understand the structural variation between the genomes of different people, which is what we still need to know.
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