Scientists have finally mapped an entire human genome, nearly two decades after researchers first announced that they had sequenced the majority of the roughly 3 billion letters contained in human DNA. The work was done by the Telomere to Telomere (T2T) consortium.
- The full, no-gaps human genome that the consortium compiled, called T2T-CHM13, consists of more than 3 billion base pairs of DNA and just under 20,000 protein-encoding genes.
- In 2003, when the Human Genome Project ended, many sections of the genome still couldn’t be placed.
- But now, researchers have successfully deciphered the entire human genome.
- According to researchers, having a complete, gap-free sequence of the roughly 3 billion bases in our DNA is critical for understanding the full spectrum of human genomic variation and for understanding the genetic contributions to certain diseases.
Benefits
- The now-complete human genome sequence will be particularly valuable for studies that aim to establish comprehensive views of human genomic variation, or how people’s DNA differs.
- Such insights are vital for understanding the genetic contributions to certain diseases and for using genome sequence as a routine part of clinical care in the future.
- Many research groups have already started using a pre-release version of the complete human genome sequence for their research.
- Having the full genome at the disposal of scientists and researchers will allow the medical community to analyze genetic variation in individual people compared to the base genome, and investigate how those variations may play a role in disease.
About DNA
- DNA is made of tiny molecules called nucleotides, each of which contains a phosphate group, a sugar molecule and a nitrogen base.
- The four types of nitrogen bases (adenine, thymine, guanine and cytosine) pair together to make the rungs on the DNA double helix that encodes our genetic identity.
- Two strands of these double helices form a chromosome, and humans have a total of 23 chromosome pairs, one from each parent.
- DNA sequencing is the process of figuring out the order of the base pair building blocks in a section of DNA.
