While targeted capture has been used in genomic studies for years, it has traditionally been possible only for short stretches of DNA. Capturing longer genomic regions or entire genes allow scientists to study the entire loci unambiguously.
The Sage Science team launched the HLS-CATCH method to address this need. By pairing the SageHLS instrument for automated extraction or purification of extremely long DNA fragments with CATCH, a CRISPR-based technique for snipping out regions of interest with Cas9 guide RNAs, the HLS-CATCH method allows scientists to capture large, complex regions for cost-effective analysis.
Early demonstrations of this method successfully targeted the BRCA1 gene, the 4 Mb MHC locus, and a series of large structural variants. Results included high-quality, fully phased assemblies of the targeted regions. To see data about some of those experiments, check out this Stanford presentation that was given at the 2018 annual Advances in Genome Biology & Technology meeting. These publications from Stanford University (BioRxiv preprint, 2020) and the University of Washington (J. Med. Genet., 2020) demonstrate the potential of the method in clinical settings.