Clinical detection of deletion structural variants in whole-genome sequences

A new method that detects parts of the genome where chunks of DNA are missing could aid the rapid diagnosis of serious genetic disorders. These DNA deletions, as they are known, are implicated in many genetic diseases, and although techniques exist to spot them, there is no gold standard clinical test. Stephen Kingsmore and colleagues from the Rady Children’s Institute for Genomic Medicine in San Diego and Children’s Mercy Hospital in Kansas City have devised a new method that incorporates whole genome sequence data and two already-existing techniques. The result is a test with good predictive value that was able to detect disease-causing deletions in families with ill children suspected of having a genetic disorder. Critically, the test takes just 8-hours to run, meaning it could be used to help underpin clinical management decisions.