First complete sequence of the human genome

April 13, 2022

We are so excited about the recent announcement of the first complete sequence of the human genome.

The complete sequence of the human genome provides us with a new lens into regions that are prone to copy number variations. These regions, which make up at least 7% of the genome, were missing from earlier drafts of the genome sequence, and this prevented us from comprehensively understanding their role in disease. However, with a complete genome sequence, we now have a baseline from which we can detect complex copy number variants. The detection of these variants promises to lead to the development of more effective treatments and therapeutics that can improve the quality of life and outcomes for affected individuals. In the near future, we hope to develop new tools and resources for the community that will accelerate the detection of these variants and lead to more effective treatments for those with complex copy number variations, like dup15q syndrome.

Dup15q Alliance, in partnership with Project 8p and Ring 14 USA, is also grateful to have members of the team that performed this amazing work as part of the Commission on Novel Technologies for Complex Copy Number Variants.