October 19, 2019: Publication in Nature Genetics illustrates the potential of SuRE to identify disease-causing non-coding sequence variants
In this recent publication in Nature Genetics a team from the Netherlands Cancer Institute illustrated how the SuRE technology can be used to screen entire genomes or millions of sequence variants to identify non-coding variants that are most likely to play a role in traits or disease. The SuRE technology was used to screen 4 entire human genomes containing 6 million variants, out of which 30 thousand non-coding variants were identified with an impact on promoter or enhancer activity. By overlaying these data with typical GWAS or eQTL data the researchers identified likely causal candidates out of hundreds of LD-linked associated variants.
The SuRE platform is commercialized by Gen-X and this work exemplifies its value in research programs focused on the genetic background of disease. The publication was also featured in this recent article by Genomeweb: Dutch Startup Gen-X Offers Functional Genome Annotation Services