“PopDel” detects deletions in our genomes

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 Berlin Institute of Health (BIH) and the Regensburg Center for Interventional Immunology (RCI) have teamed up with Icelandic researchers to develop software that reliably and quickly identifies large deletions in ten-thousands of genomes simultaneously. The researchers have now published their findings in the journal Nature Communications.

Quelle: IDW Informationsdienst Wissenschaft