PopDel, a new software to detect large DNA deletions

The human genome contains roughly three million letters. On average, the genome sequences of any two people differ from each other by about one in every 1,000 letters. Yet different variants occur, from substituted letters to entire missing sections of DNA.

Scientists from the Regensburg Center for Interventional Immunology (RCI) and the Berlin Institute of Health (BIH) have teamed up with Icelandic researchers to develop PopDel, a software that reliably and quickly identifies large deletions in ten-thousands of genomes simultaneously. This tool can provide a basis for the identification of deletions affecting human health. The researchers have now published their findings in the journal Nature Communications.

“We hope that PopDel will enable us to identify new genetic variants that are responsible for enhancing immune cell functions. Recreating such mutations using state-of-the-art gene editing technologies would provide the RCI with innovative cellular platforms for the treatment of cancer and immune-related diseases such as autoimmunity and graft-versus-host disease.”, says Professor Philipp Beckhove, scientific Director of the RCI.

Click here to read the full Press-release

For more information, please visit the full article in the journal Nature Communications:

Niehus S, Jónsson H, Schönberger J, Björnsson E, Beyter D, Eggertsson HP, Sulem P, Stefánsson K, Halldórsson BV, Kehr B. “PopDel identifies medium-size deletions simultaneously in tens of thousands of genomes”, Nature Communications 12:730 (2020).

www.nature.com/articles/s41467-020-20850-5