Scientists Generate the First-Ever Complete Sequence of the Human Genome

Source: BBC.com

Source: BBC.com

A team of nearly 100 scientists from the Telomere-to-Telomere (T2T) Consortium has successfully unveiled the complete human genome for the first time, according to CNN.com

 

In 2003, the Human Genome Project made history when it sequenced 92% of the human genome. Over the past two decades, scientists have been trying to sequence the remaining 8%, and now it has finally been figured out. 

 

“The difficulty of the assembly problem and limits of past technologies are highlighted by the fact that the human genome remains unfinished 20 years after its initial release in 2001,” stated Nature.com.

 

A genome refers to an organism’s complete set of DNA. “It is the blueprint that contains the instructions for building an organism, and no understanding of genetic function or evolution could be complete without obtaining this information,” according to Britannica.com.  

 

If the DNA in one cell is stretched out, it would be about 2 meters long. The DNA in all cells put together would be about twice the diameter of the Solar System.

 

DNA sequencing determines the order of nucleotides (the “building blocks” of DNA and RNA) in a DNA strand. It allows scientists to read the genetic code so they can study the normal versions of genes. DNA sequencing also allows them to compare normal gene versions and disease-causing versions of a gene.

 

The Telomere-to-Telomere (T2T) Consortium published a collection of papers that contained the first-ever, entirely gapless, complete sequence of the human genome on April 1st, 2022. 

 

The National Human Genome Research Institute, or NHGRI, stated, “The T2T consortium further used this newly completed genome sequence as a reference to discover over 2 million additional genomic variants.” 

 

Mapping out the entire human genome is a significant milestone for genomics, and it will provide valuable information for gaining a comprehensive view of the variations of genomes and future disease investigations.