Tag Archives: CNV

Secondary Analysis 2.0 – Part III

Detection of CNVs

Detection of CNVs in NGS Data Our Secondary Analysis 2.0 blog series continues with Part III: Detection of CNVs in NGS Data. We will give you an overview of some design principles of a CNV analytics framework for next-gen sequencing data. There are a number of different approaches to CNV detection. The published algorithms share common strategies to solve the… Read more »

Secondary Analysis 2.0 – Part II

Detection of CNVs

In this blog series, I will discuss the architecture of a state of the art secondary pipeline that is able to detect single nucleotide variations (SNV) and copy number variations (CNV) in one test leveraging next-gen sequencing. In Part I, we reviewed genetic variation in humans in general and looked at the key components of a systems architecture supporting this… Read more »

Secondary Analysis 2.0 – Part I

Detection of CNVs

Human genetic variation makes us unique. On average, humans are to 99.9% similar to each other. Understanding in detail what the nature of the difference in our genetic make-up is all about allows us to assess health risks, and eventually enables Precision Medicine as we determine treatment choices. Furthermore, it enables scientists to better understand ancient human migrations. It gives… Read more »

CNV exome analysis coming to VarSeq!

CNV Exome Analysis

VarSeq will soon provide CNV exome analysis! In our webcast last week, we announced that we took our CNV caller, VS-CNV, to the next level. Along with the ability to call CNVs at the single-exon level in NGS gene panels, VarSeq can soon be used to call large loss of heterozygosity (LOH) and  CNV events at the exome level. The combination… Read more »

Final thoughts on ASHG 2016

      Andreas Scherer    October 25, 2016    No Comments on Final thoughts on ASHG 2016
Customer Success

ASHG 2016 is in our rear mirror. Again, it was bigger and better than the previous year. The conference hosted over 9,000 visitors from 66 countries. This gave the event a level of vibrancy that was evenly matched by the wonderful ambiance of the city of Vancouver. Nestled in between the two conference centers was a little pier offering spectacular… Read more »