Genetic sequences contain human genetic information, and we have never stopped deciphering our genetic information. On April 1, the first and most complete sequence of the human genome to date was published, and the relevant findings were published in papers in the journal Science.
The complete sequencing and analysis work was performed by 114 scientists. These scientists come from 33 research institutions in different countries and are also known as the Telomere-to-Telomere (T2T) Consortium.
The human genome has been studied for more than 50 years. One of the most famous research projects is the Human Genome Project, launched in 1990, which took more than 10 years and $3 billion to complete the sequencing of the Human Genome Project on April 14, 2003, and mapped the human genome for the first time. The sequencing efforts at that time greatly advanced the study of genomics and increased our understanding of the human body and disease.
However, the sequences derived by the Human Genome Project at that time still left a gap of about 8%, which contained many highly repetitive DNA sequences. This 8% gap stems from the limitations of sequencing technology 20 years ago when the sequencing method used was short-read technology, which could only read a short section of gene sequence at a time and had no way of knowing how many times the gene had been repeated.
It was not until the introduction of two new long-read technologies that a turning point in the study of the human genome was set. One is Oxford Nanopore DNA sequencing, which can read up to 1 million DNA bases at a time with moderate accuracy. The other is PacBio HiFi sequencing, which can only read 20,000 bases at a time, but with near-perfect accuracy. Both technologies, which can measure large chunks of DNA sequences at once, allow researchers to directly see an entire sequence and tell how many times a sequence has been repeated consecutively.
Starting in early 2019, scientists in the T2T consortium combined these two new techniques and worked to figure out these repeated sequences and fill in the missing gaps. And at the end of 2020, they announced the milestone, the complete assembly of the chromosome X and 8. After 2 years of work, they have now finally unveiled the truly complete sequence of the human genome, containing every chromosome from telomere to telomere.
“This announcement of the human gene sequence fills a 19-year-old gap, revealing previously unreadable base pairs. From this stage, although it will not immediately bring changes to genetic testing and related gene therapies, it will have greater application as humans make new discoveries in these newly completed regions,” commented by a scientist at Creative Biolabs, a biotech company focusing on gene therapy development service.
This research is another milestone work since the completion of the Human Genome Project was announced in 2003. Complete genome sequencing will lay the foundation for the development of precise gene therapies development for diseases, and will in the future revolutionize technologies for disease diagnosis, new drug development, and the exploration of new types of therapies.
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