Scientists say the human genome was finally fully mapped 20 years after the first draft was produced. The final complete map, which includes more than 3 billion base pair sequences and nearly 20,000 protein-coding genes, completes missing parts of previous studies that will open the door to future medical discoveries and a greater understanding of the code of human life.
The complete map of the human genome was finally drawn after 20 years
According to Reuters reported on March 31, an international research consortium published a paper in the April 1 issue of the journal Science, officially releasing a complete map of the human genome. Scientists began experimenting more than 30 years ago to map the entire human genome, sequencing genes for deoxyribonucleic acid (DNA) on 23 pairs of human bodies.
In 2003, researchers published what was then known as the complete sequence of the human genome. However, the map only sequences 92 percent of the human genome, leaving 8 percent undeciphered, largely because it is made up of highly repetitive pieces of DNA that are difficult to sequence.
Cover of a special issue of Science magazine published on April 1
Over the past decade, as gene sequencing techniques have improved, researchers have finally been able to decipher the last 8 percent. Eric Green, director of the National Institutes for Human Genomes (NHGRI) at the National Institutes of Health, said in a statement: "Sequencing to generate a truly complete human genome represents an incredible scientific achievement that provides the first full picture of the human DNA blueprint. ”
"This foundational information will reinforce many ongoing efforts to understand all the functional nuances of the human genome, which in turn will facilitate genetic research into human disease," Green added.
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 consists of 3.055 billion base pairs (the units that make up chromosomes and human genes) and 19,969 protein-coding genomes.
Of these genes, the researchers found about 2,000 new genes, most of which are disabled, but 115 may still be active. The researchers also found about 2 million additional genetic variants, 622 of which are present in medicine-related genes.
Deoxyribonucleic acid (DNA) carries genetic information in almost all organisms
Scientists say the complete genome map could further shed light on the mystery of human genes, give humans a deeper understanding of evolution and biology, and open the door to medical discoveries in areas such as aging, neurodegenerative diseases, cancer and heart disease. "We're broadening the opportunities to understand human disease," said Karen Miga of the University of California, one of the authors of the study.
According to Adam Phillipy, president of the Telomere-to-Telomere (T2T) Coalition, sequencing a person's entire genome in the coming years should be cheaper and simpler.
"In the future, when someone sequences their genome, we'll be able to identify all the variants in their DNA and use that information to better guide a patient's health care," Philip explains. Now that we can see everything clearly, we are one step closer to understanding what it all means. ”
Nandu reporter Shi Minglei