For the first time in history, an international consortium of scientists published the first complete human genome, complementing previous research and opening up horizons for the analysis of mutations responsible for the occurrence of certain diseases and genetic variability among all the inhabitants of the planet. . The feat was published at the end of March.

The last major discovery in this area came in 2003, when researchers uncovered what they believed to be the complete genome sequence. However, about 8% remained to be deciphered – this percentage consisted of pieces DNA repetitive patterns that were difficult to match with the rest of the sequence.

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Eric Green, director of the National Human Genome Research Institute (NHGRI), praised the achievements of the scientists responsible for the study and how it can help many areas of research.

“Creating a truly complete sequencing of the human genome represents an incredible scientific achievement,” he said in a statement. “[Foi fornecida] the first comprehensive presentation of our blueprint for DNA.”

“This fundamental information will strengthen the many ongoing efforts to understand all the functional nuances of the human genome, which in turn will enable genetic studies of diseases,” he added.

The work was originally made public back in 2021, but has yet to be solved by peers. The study has now been peer-reviewed and published in Science, one of the most prestigious academic journals in the world, published by the American Association for the Advancement of Science (AAAS).

The discovery represents a big step for research in this area.

The complete sequencing of the human genome consists of over 3 billion base pairs of which chromosomes and genes are built, for a total of 3,055 bi and 19,969 protein-coding genes. Of these, about 2000 are new in relation to previous studies.

For experts in the scientific community, this represents a step forward with respect to DNA analysis, as it will no longer be necessary to consider only small patches of a compound. And, despite the excellent result, there is still much to discover.

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“Now, instead of studying small sections of DNA, it will be possible to see the entire human genome,” said researcher Glennis Logsdon from the University of Washington in an interview with Globo TV.

“The puzzle is ready for one person. There are now hundreds, and possibly thousands, to be sequenced in the next few years,” said Professor Evan Eichler, one of the most famous experts in the field of genome research, also of the radio broadcaster of Rio de Janeiro.

Discover the largest family tree ever created, spanning over 100,000 years and millions of ancestors.
The study was made possible by researchers at Oxford University’s Big Data Institute.

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Source: Folha de São Paulo, Globo.