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 many types of additional testing paradigms used to analyze in particular so-called copy number variations (CNVs). Among those, labs still widely use Chromosomal Microarrays and MLPA to name a few.
Naturally, 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 kind of 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. This eBook captures the essential concepts in this field. It also shows what an integrated analysis looks like in practice. The research that led to the development of VS-CNV and that is reported in this e-Book was supported by the National Institute of General Medical Sciences of the National Institutes of Health under Award Number R43GM125432. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. Having this said, we are extremely grateful to receive this support by the NIH allowing us to accelerate our development cycles.
This new edition highlights some of the research that has been conducted comparing the effectiveness of VS-CNV vs standard methods such as MLPA. A lot of people in Golden Helix have contributed to this eBook. Specifically, I’d like to thank Nathan Fortier for his incredibly deep understanding of this field and his invaluable contributions to our offering. Also, I’d like to thank Gabe Rudy and Delaina Hawkins for their support.
Please download your copy here: http://goldenhelix.com/resources/ebooks/index.html