Tag Archives: CNV analysis

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 »

UCLA Health Diagnoses Long Running Medical Mystery

Recent Customer Publications

We don’t just like hearing what our clients are up to … we love bragging about them as well! This week we’re showcasing Dr. Stanley Nelson, and his team at UCLA Health, who used next-generation sequencing and our VarSeq software to help diagnose a child’s long running medical mystery. Audrey Lapidus knew there was something wrong her son, Calvin, since… Read more »

Frequently Asked Questions: CNV analysis in VarSeq

CNV FAQ

The support team at Golden Helix is always here to help with your SVS and VarSeq needs. Often, we receive some excellent questions that should be shared with the rest of our users. This blog will answer some common questions we’ve been seeing lately regarding VarSeq CNV. I’ve noticed there is a version 2 of the CNV caller on Targeted Regions Algorithm, how has… Read more »

CNV Caller Updates and More with VarSeq 1.4.5

Genotype Imputation

We have been heads down doing the detailed and careful work to improve our CNV caller algorithm in the past three months since our we launched our Exome capable CNV caller and are very excited about the massive step forward we have made with the VarSeq 1.4.5 release. Additionally, we have added the all new Whole Genome large-event caller capable… Read more »

CNV User Perspective Webcast Q&A

CNV User

Nathan Fortier’s webcast yesterday, CNV Analysis in VarSeq – A User’s Perspective, was an excellent demonstration of our CNV capabilites, so check it out here if you missed it. There were a number of questions asked in the live event, so in today’s blog post I wanted to recap the Q&A session. Question: Do the reference samples have to be from the… Read more »