In 2001, several research groups announced that they had decoded 92% of the human genome, a milestone for biomedical research and science as a whole. Now, an international research team has likely decoded an even larger portion using new technology. The genome is the most important component of a human, containing chromosomes, DNA, and RNA. Decoding the genome can reveal which genetic building blocks control bodily functions, how diseases arise, and how cancer develops. The biggest challenge for a more precise analysis of the human genome was previously inadequate technology. However, an international research team led by the National Human Genome Research Institute in Bethesda has now succeeded in decoding the remaining 8% using new technology.
For their study, the researchers used two alternative new technologies. One sequenced the DNA molecule into larger pieces, while the other examined this sequence with lasers. Alone, these new technologies are unreliable, but in combination, they produced a usable result. The number of DNA bases detected increased from 2.92 billion to 3.05 billion, an increase of 4.5%. The number of genes detected increased by 0.4% to 19,969. While this may not sound like much, the complex sequences examined are responsible for the development of an embryo and could provide new insights for the DNA scissors CRISPR. The research team only examined 23 chromosomes instead of the usual 46, as the genetic material came from a bladder mole. This reduced the required computing power for the examination. Despite the impressive result, it has not yet been confirmed by independent research teams. The study has only been uploaded to the preprint server BioRxiv and must be verified to be considered a scientific discovery.
If confirmed, the entire field of genetics could benefit from new methods and help find a cure for cancer or AIDS. The first decoding of the human genome in 2001 only analyzed 23 chromosomes, but as technology continues to evolve, the researchers plan to examine all 46 chromosomes next time. The importance of decoding the human genome cannot be overstated, as it can provide insights into the genetic basis of diseases and lead to new treatments and cures.
