The human genome is the complete set of DNA that makes up a human being. It contains about 3 billion pairs of letters, called bases, that encode the instructions needed to form and maintain the body. However, not everyone has the same genes. There are small variations that make each individual unique.
For more than two decades, scientists have been trying to map the human genome and understand its diversity. The first version of the human genome map was published in 2000, but it was based on a few individuals and had many gaps and errors. Since then, researchers have improved the accuracy and completeness of the map and added more genomes from different populations.
The latest achievement in this field is the creation of a pangenome, a comprehensive map combining the DNA of 47 diverse individuals from different regions and ethnic groups. The pangenome was published in the journal Nature in May 2023. It revealed thousands of new genetic variations that had not been recorded on previous maps, including large differences such as deleted, inverted or Copy. Pangenome is based on a mathematical concept called a graph, which can be visualized as a giant version of connecting the dots. Each spot is a piece of DNA, and each person's genome may follow a slightly different path, skipping some spots and adding others. In this way, the pangenome can represent the diversity and complexity of the human genome in greater detail than ever before.
The pangenome not only constitutes an important scientific milestone but is also a potential tool for medical applications. This could help diagnose rare diseases caused by genetic mutations that cannot be detected with conventional methods. It can also shed light on evolutionary history and human adaptation to different environments and challenges.
However, pangenome is not the last word in the human genome. It remains incomplete and biased towards certain populations. The researchers plan to expand it by adding genomes from 300 more people from around the world. They hope the pangenome will become a valuable resource for studying biology and human health in all its diversity.
#science #variation in species #biology #genetics #diversity
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