Tag Archives: CNV

Clinical Validation of Copy Number Variants Using the AMP Guidelines

The common approaches to detecting copy number variants (CNVs) are chromosomal microarray and MLPA. However, both options increase analysis time, per sample costs, and are limited to the size of CNV events that can be detected. VarSeq’s CNV caller, on the other hand, allows users to detect CNVs from the coverage profile stored in the BAM file, which allows you… Read more »

Annotating and Cataloging CNVs in Varseq – Webcast Q&A

We love when our viewers send questions in during the webcast but unfortunately we can’t answer all of them during the time allotted!  If you asked a question see below for answers, or if after viewing, you have any questions that weren’t asked, please feel free to send those over to support@goldenhelix.com. Does this work for FFPE derived DNA or ctDNA?… Read more »

CNV Setup & Quality Assessment: Part 2

annotate

With this two-part blog series, users should now be able to perform CNV analysis using their data, set up basic quality filter standards to isolate high-quality events and utilize annotations to hone in on publicly known events as well as in-house recorded CNVs from previous projects.

CNV Setup & Quality Assessment: Part 1

annotate

2017 was a busy year regarding the development of our CNV tools. Since the release of the CNV caller, we have produced quite a bit of content tailored to assist our users with getting started. Here are some links: Robarts Research Institute CNV analysis on patients with familial hypercholesterolemia CNV annotations Common CNV questions CNV calling with shallow whole genome… Read more »

Robarts Research Institute & VS-CNV

One of our main focuses in 2017 was VS-CNV which allows clinicians to directly call CNVs in target regions quicker, easier and more affordably than CMA or MLPA testing. Our clients at Robarts Research Institute shared their recent publication with me which confirms that our time and dedication to our CNV capabilities was well worth it. I am delighted to… Read more »