We have released a new version of my eBook, “Secondary Analysis 3.0”. To download a complimentary copy, I encourage you to do so here.

Next-Generation Sequencing (NGS) promises 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 to analyze in particular so-called Copy Number Variants (CNVs). Among those, labs still widely use Chromosomal Microarrays and Multiplex Ligation-dependent Probe Amplification (MLPA), to name a few.

Naturally, lab processes change gradually. Initially, the computational complexity that 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 SNP analysis. This eBook
captures the most important concepts in this field, while at the same time providing insight into an integrated analysis applied in practice.

Our special thanks go to the NIH for providing Golden Helix with exceptional funding to develop our CNV solutions. This work is funded under the following grants: R43GM128485, 2R44GM125432-01, and 2R44GM125432-02.