SAN FRANCISCO (GenomeWeb) – As long-read sequencing and genome mapping technologies continue to improve, researchers are increasingly using them to identify structural variants that were previously impossible to detect, both cost-effectively at a large scale. The technologies are being used for a variety of applications, increasingly moving into clinical research and diagnostics.

Last year, for instance, whole-genome sequencing on Pacific Biosciences' technology was used to diagnose a pathogenic structural variant for the first time.