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The complete human genome

Date: 07 April 2022 Tags: Miscellaneous


A team of researchers have managed to decode the remaining 8 percent of the human genome that was left unsequenced.



The map of the human genome was decoded for the first time about two decades ago but some part was not decoded.



  • A genome is a complete genetic material present in an organism. Majority of it is same in all humans but a small part of DNA varies between individuals.

  • A global collaboration called the Telomere-2-Telomere (T2T) project was responsible for decoding the complete human genome.


Missing part

  • The Human Genome Project was responsible for decoding the human genome. The information was from a region of the human genome known as the euchromatin.

  • The left out portion was in the area called heterochromatin. It was smaller and did not code for proteins.

  • The heterochromatin portion was left out because it was thought to be junk as it did not perform clear function.

  • In addition, many genes from euchromatin could be decoded from tools available during that time.


Observations in remaining portion

  • Highly repetitive DNA sequences found in and around the telomeres and centromeres are present in new genome. It is called as T2T-CHM13.

  • The new sequence also reveals long stretches of DNA that are known to play important roles in evolution and disease.


Significance of genome studies

  • It easier to study genetic variation between individuals or between populations by having a complete human genome.

  • Access to complete genome can be used as a reference to study DNA variations in humans that causes a disease.


New studies

  • The T2T group used the complete genome sequence as a reference to discover more than 2 million additional variants in the human genome.

  • The new T2T reference genome will complement the standard human reference genome, which originated from the Human Genome Project. 

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