Next-Gen Sequencing promised to be the ultimate paradigm when it comes to genetic research and clinical testing since it contains the complete genetic information. When it comes to the current reality in testing labs, there are still a number of additional testing paradigms used in an analysis, specifically, copy number variations. Among these, labs still widely use Chromosomal Microarrays and MLPA to name a few.
Lab processes change gradually. Initially, the computational complexity involved sifting through NGS data in the quest to detect CNVs at the appropriate level of sensitivity and specificity limited the development of commercial grade solutions. However, recent advances made it possible to conduct this analysis in one test. Golden Helix spearheaded the development of commercial grade algorithms and methods that allow the analysis of CNVs in gene panels, clinical exomes and whole genomes side by side with the standard SNV analysis.
In my latest eBook, Secondary Analysis 2.0, I cover the most important concepts on this topic. Additionally, I give a detailed overview of what an integrated analysis looks like in the practice. If this is a topic that you’re interested in, I encourage you to download a free copy of this eBook!
Many people at Golden Helix have contributed to this eBook. Specifically, I’d like to thank Nathan Fortier for his incredibly deep understanding of this field and for his invaluable contributions to our offering. Also, I’d like to thank Gabe Rudy, Steven Hystad and Delaina Hawkins for their support.
I hope you enjoy!