Whole-genome data has broad utility as it can detect SNVs, insertions/deletions, copy number changes, and both large and small structural variants. Thanks to recent technological innovations, the latest genome sequencers can perform whole-genome sequencing more efficiently than ever.
At Bionano, we equip labs with the single-source software solution they need to overcome this challenge. NxClinical software is, what we believe, to be the most comprehensive and up-to-date solution for cytogenetics and molecular genetics in one system for analyzing and interpreting all genomic variants, including CNVs, from microarray and NGS data.
The newest version of NxClinical fills a critical role—it solves the two conventional software problems identified within this blog—with its integrated Knowledgebase (KB) module. This first-of-its-kind database feature can dramatically simplify a lab’s interpretation, reporting process, and standardization while enhancing the consistency of each case report.
A while back we discussed what systematic correction is and how the files are created to apply this to your data. As a follow up, today we'll explain how the content of systematic correction files are used.
Most are well-aware of Nexus Copy Number’s strengths in detection of copy number from different technologies and this often overshadows the many other powerful features of Nexus Copy Number. A recent customer publication illustrates nicely the power of these additional analysis tools. Here I’m going to walk through a recent customer publication highlighting the areas where the authors used these powerful research tools available within Nexus Copy Number.