Two decades after the first draft sequence of the human genome, scientists have revealed the first complete sequence. The subject of six studies published in the magazine Science, this discovery considerably enriches our knowledge of chromosomes and will make it possible to understand the full spectrum of human genomic variations and the genetic contributions to certain diseases.
- A person’s genome contains all of their genetic material carried by the DNA located on the 23 pairs of chromosomes inherited from their biological parents.
- The full sequencing builds on the work of the Human Genome Project, which mapped around 92% of the genome, and on research undertaken since then
- These new studies provide more precise information on genomic variants within 622 medically important genes
This is a step that considerably enriches our knowledge of chromosomes and will allow us to understand the full spectrum of human genomic variations and the genetic contributions to certain diseases. The first complete sequence of the human genome is the subject of six studies published in the magazine Science.
8% missing, yet essential! While the work of the Human Genome Project undertaken so far only mapped around 92% of the genome, a large international team led by Adam Phillippy of the National Institutes of Health (NHGRI) succeeded in revealing the last eight percent of the human genome. These long-missing pieces of our genome were thought by some to be junk DNA with no definite function, but they are actually linked to about 600 genes that are thought to be medically relevant. “You would think that, with 92% of the genome being completed a long time ago, the remaining 8% would not add much,” explains Erich D. Jarvis, of Rockefeller University, co-author of the study, who contributed to the development of a number of essential techniques to unlock the last pieces of the human genome. “From that missing eight percent, we now gain an entirely new understanding of how cells divide, allowing us to study a number of diseases that we weren’t able to address before. ”.
An incredible scientific achievement
The new data contains mysterious pockets of non-coding DNA that don’t make proteins, but play crucial roles in many cellular functions and could be at the heart of conditions in which cell division goes into overdrive, such as cancer. Analyzes of the complete genome sequence, in particular through more precise maps of the five chromosomal arms, make it possible to answer fundamental biology questions about how chromosomes separate and divide correctly.
“The generation of a truly complete human genome sequence represents an incredible scientific achievement, providing the first comprehensive view of our DNA blueprint,” said Eric Green, MD, Ph.D., director of NHGRI. will strengthen the many ongoing efforts to understand all the functional nuances of the human genome, which, in turn, will strengthen genetic studies of human diseases.” This discovery will be particularly valuable for studies that aim to establish comprehensive views of human genomic variation, or how people’s DNA differs.This knowledge is essential for understanding genetic contributions to certain diseases and for using genome sequencing in routine clinical care in the future.
.