As a new gene detection technology, gene sequencing can analyze and determine the complete gene sequence from blood or saliva. It can not only predict the possibility of suffering from a variety of diseases, individual behavior characteristics and reasonable behavior, but also lock in individual disease genes, and prevent and treat in advance. It can be said that it is a technology that can change the world.
According to foreign media reports, a new study published on the preprint paper platform biorxiv recently pointed out that the most complete sequencing of human genome has been carried out at present, including 8% of human DNA that was missed in the first human genome sequencing 20 years ago.
According to the telomere to telomere (T2T) consortium, they have sequenced the entire human genome, including the human genome map published in 2001 and all the missing segments in the human genome map published in 2013.
In the new genome sequencing, scientists have found 8% of the previously missing human DNA. If the research is finally verified, it will be the most complete human genome map ever.
In the new sequencing, the researchers used two more accurate sequencing technologies: Oxford nanopore and pacbio hifi long read sequencing system. They increased the number of DNA bases from 2.92 billion to 3.05 billion, and the number of genes only increased by 0.4% to 19969.
Researchers say 200 million new base pairs have been found in the missing genome segments. Among them, there are 2226 genes, 115 of which are expected to encode a protein, but it is not clear what role these protein coding genes play.
It is worth mentioning that the genome sequencing work also has some limitations. The DNA sequence used by the researchers is from the vesicular mole (hydatidiform mole) in the female uterus, which means that it only contains 23 chromosomes, not 46. Therefore, the Y chromosome is not included.
