Two recent studies have made ahead of the study on the human genome offering an overview of the different variables
The term pangenoma It indicates the set of man’s genes and their variants that can be identified within the species. The goal of scientists is to compile a sort of atlas of man’s genes and all its possible variants.
Human Pandenoma: meaning and what it is
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In 2003 it Human Genome Project He wrote the first sequence of the human genome from the DNA of a restricted group of people. In 2015, on the other hand, the genetic code of over 2500 individuals was sequenced. Today, ten and 22 years later, two studies published on Nature they offered an even more complete overview of the human genome. Through modern sequencing technologies, two different research groups with workshops and scientists from different countries have worked to develop a large map of the human genome. Modern technologies have made it possible to expand the ability to read DNA sequences Managing to read thousands of letters at a time and making it possible to assemble the entire genome and evaluate its genetic variation in all its parts. The goal of the two research was to be able to understand the human variability that can be represented both by small changes and by whole pieces of canceled DNA, reversed, repeated or added. Variants that can also lead to some pathologies, including canceras Jan Korbel co -author Senior of both studies explained.
searches
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One of the two studies presented on Nature He sequenced over 1000 genomes of 26 populations from 5 different continents, now being able to read even previously neglected parts because they are considered difficult to study. In this way, 167 thousand structural variants of human DNA have been categorized. Not only but 60% of the discovered variants were present in less than 1% of the individuals analyzed, providing help in identifying rare genetic diseases allowing to filter the harmless variants effectively. This could accelerate the process for a diagnosis of rare genetic syndromes and other types of diseases including tumors. So these research as well as making progress to biological knowledge can help precision medicine.
the prospects
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The second study, on the other hand, focused only on 65 genomes by reconstructing them with a level of detail considered unique and allowing scientists to decode complicated dna sections to read. The combination of the two studies has led to the development of a resource that can be used all over the world to better understand the origins of genomic variability. THEto the perspective of the human pandenoma is therefore considered fundamental To understand the different variables that can lead to the development of potential pathologies, to find the best way e more and more individual to face them.
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