A group of 100 scientists managed to completely sequence the human genome for the first time. Until recently, only 92 percent of it was known as a result of a work published in 2003 by the Human Genome Project. The complete genome will allow experts to analyze genetic diseases and explore genetic variations between people.
The remaining 8 percent of the human genome sequencing was carried out by scientists from the Telomere-to-Telomere (T2T) Consortium, an international team of scientists from the US National Human Genome Research Institute, and dozens of other institutions worldwide. The complete human genome is composed of 3.055 billion serial nucleotides, the organic molecules that make up the human DNA. According to their research, the DNA that remained to be mapped came from regions with many repetitions, which made it impossible to work with the technologies available at the time (2003).
The finding was achieved thanks to new sequencing technologies, such as the Oxford Nanopore, which can sequence up to 1 million DNA serial nucleotides at a time, allowing many of these repeated pieces to be captured simultaneously within the same sequence of long DNA nucleotides. This was one of the many exclusively-developed technologies and strategies for sequencing the remaining difficult regions of human DNA. The latter emerged as a high-priority area of genomics research.
“The novel finding will enable comprehensive studies of genomic variation across the entire human genome, which we expect to drive future discovery in human genomic health and disease,” read the study, published in Science Journal.
Moreover, “knowing one’s genetics from an early age can help us avoid health conditions we might be more vulnerable to, obtain correct nourishment, prevent chronic diseases or get adequate physical activity,” explained Gustavo Rodríguez, Founder and CEO, nutriADN.
Completing the sequencing costed a fraction of the nearly US$450 million it cost the Human Genome Project to achieve its 92 percent sequence in 2003, according to CNN. With new technology, sequencing is only becoming more accessible.
While genome sequencing may be too expensive and time-consuming for everyone, the new mapping capabilities can help to identify whether certain genetic differences are linked to specific cancers. The researchers hope that in the next 10 years anyone can sequence their own genome for less than US$1,000 (MX$20,000).