Dr. Darine Villela and colleagues in Dr. Carla Rosenber's lab at the University of Sau Paulo, Brazil sought to find an integrated solution to combine two tests into one – one that was cost effective and easy to adopt in a clinical setting. They noted that there are several tools for CNV analysis from sequencing data, but the homemade tools are designed for a specific pipeline, are not user-friendly and require a high degree of bioinformatics expertise. They knew they needed a solution that would be easy to implement in a clinical lab and chose a commercial target enrichment kit and BioDiscovery’s Nexus Copy Number for analysis.
Two of the hottest fields in the genomic diagnostics market are NIPT (Noninvasive Prenatal Testing) and liquid biopsy. Both share the same mechanim by testing the circulating free DNA in the bloodstream, even though NIPT applies in the pregnancy diagnostics while Liquid Biopsy is for cancer.
We have come a long way in a short amount of time with NGS (next-generation sequencing) technologies. Learn more about the benefits here!