Scientists manage to map the entire human genome

Efforts to map the human genome began 20 years ago, and now scientists have managed to fill in the missing percentage.


Scientists have finished mapping the entire human genome , 20 years after most of it was completed. In new research published this week, a team of researchers have achieved a genome sequence with no gaps, accounting for 8 percent of the genetic information ever known.

This missing percentage may provide more information about the evolutionary path that humans went through , as well as our susceptibility to certain diseases .

The Human Genome Project started in 2003 with the idea of ​​fully representing our genetic code. Due to the limitations of those years, they had focused on translating and reconstructing DNA in euchromatin regions of the genome , which are less involved. 

The ‘dark matter’ of our genetic code

Until recently, the Human Genome Project technique had managed to map 92% of the genome , but there was still DNA in our heterochromatin regions , referred to as the “dark matter” of our genetic makeup .

However, advances in genetic sequencing have brought scientists closer to unraveling these gaps. This led scientists from the Telomere to Telomere ( T2T ) consortium to find a cell line derived from those with a rare condition that left their cells with two identical copies of their parent’s genome.

“The entire human genome is making accessible for the first time hundreds of genes and parts of genes that we know are important to human health, but that were difficult to sequence and analyze ,” said Evan Eicher, a researcher at the University of Pennsylvania School of Medicine. University of Washington. “As such, we will have more power to make genetic associations with disease and thus make new discoveries.”