The international research team "Telomere-to-Telomere Alliance" officially announced the first complete, gap-free human genome sequence on March 31. Filling in the missing parts of previous related studies will help scientists further unlock the code of human life. The human genome contains about 3 billion DNA (deoxyribonucleic acid) base pairs, and completing the complete, gap-free sequencing of these base pairs is critical to understanding the full spectrum of human genome variation and understanding the effects of genes on certain diseases.
On March 31, 2022, an article published in the journal Science showed that an international scientific team completed the first complete, gap-free sequence of the human genome.
In 2001, the international "Human Genome Project", which was jointly participated by scientists from six countries, including China, published a sketch of the human genome and preliminary analysis in the British journal Nature. Due to the limitations of sequencing technology at the time, there were many blanks left in this sketch of the human genome. Later, in 2003, a map of the human genome was published. However, the map only sequences 92 percent of the human genome, leaving 8 percent difficult to sequence because it contains fragments of duplicate DNA. Over the past 10 years, with the improvement of gene sequencing technology, researchers have been able to sequence the last 8% and map the entire human genome.
On April 14, 2003, Dr. Francis Collins, head of the National Human Genome Research Program in the United States, announced at the National Institutes of Health that the sequence map of the human genome had been successfully mapped and that all the goals of the Human Genome Project had been achieved.
To complete 8% of the missing human genome map, the researchers sequenced about 200 million base pairs of the basic chemical structure of human chromosomes and genes. The final complete map includes more than 3 billion base pair sequences and nearly 20,000 protein-coding genes. Of these genes, about 2,000 are new to the study. The researchers also found 2 million new genetic variants, 622 of which are found in medicine-related genes.
A researcher examines the output of a DNA sequencer
Eric Green, director of the National Institute of Human Genomes, said that the completion of the complete human genome sequencing is an important scientific achievement, providing the first comprehensive perspective for understanding human DNA. This most basic information will advance the understanding of all the nuances of the human genome and facilitate genetic research into human diseases.
Source: Xinhua News Agency, CCTV News Network, Visual China