--- title: Accurate detection of CNVs using Agilent exon-proximal region designs and VarSome Clinical description: In a collaboration with HPST, VarSome and Agilent distributor for the Czech Republic, we evaluate the detection of exon-level CNVs by sequencing Agilent target enrichment libraries followed by analysis in VarSome Clinical. --- [![VarSome](https://landing.varsome.com/hubfs/VarSome_February2020%20Theme/Images/logo.png)](https://varsome.com/) - Editions - [More about VarSome.com](https://varsome.com/varsome-editions/varsome/) - [More about VarSome Premium](https://varsome.com/varsome-editions/varsome-premium/) - [More about VarSome Clinical](https://varsome.com/varsome-editions/varsome-clinical/) - [Learn more about APIs](https://varsome.com/information/varsome-api-info/) - About - Resources - [Library](https://varsome.com/library/) - [Documentation](https://docs.varsome.com/) - [Query types](https://varsome.com/about/examples/) - [IVDR](https://landing.varsome.com/ivdr-whitepaper) - [Germline Classification](https://varsome.com/about/resources/acmg-implementation/) - [Somatic Classification](https://varsome.com/about/resources/amp-implementation/) - Partners - [Distributors](https://varsome.com/distributors/) - [Partners](https://varsome.com/partners/) - [Become a partner](https://landing.varsome.com/become-varsome-partner) - General - [The Company](https://saphetor.com/about/) - [Cite VarSome](https://varsome.com/about/varsome-citations/) - [Link to VarSome](https://varsome.com/how-do-i-create-link-varsome/) - [Contact](https://landing.varsome.com/contact) - [Community](https://varsome.com/community-contributions/) - [Blog](https://blog.varsome.com/) [Sign in](https://varsome.com/sign-in/) [Join](https://varsome.com/sign-up/) APPLICATION NOTE # Accurate detection of CNVs using Agilent exon-proximal region design and VarSome Clinical In a collaboration with HPST, VarSome and Agilent distributor for the Czech Republic, we evaluate a solution for the detection of exon-level CNVs by sequencing of Agilent target enrichment libraries followed by analysis in VarSome Clinical. - Introduction - Materials and Methods - Results ![Accurate detection of small copynumbervariants (CNVs) usingAgilent exon-proximal regiondesigns and VarSome Clinicalanalysis tool](https://landing.varsome.com/hubfs/CNV1.jpg) [![Download Now!](https://no-cache.hubspot.com/cta/default/4384097/411ccb55-f57f-47d3-b9ec-af568b652db5.png)](https://cta-redirect.hubspot.com/cta/redirect/4384097/411ccb55-f57f-47d3-b9ec-af568b652db5) ### Accurate detection of CNVs using Agilent exon-proximal region design and VarSome Clinical [![Download Now!](https://no-cache.hubspot.com/cta/default/4384097/411ccb55-f57f-47d3-b9ec-af568b652db5.png)](https://cta-redirect.hubspot.com/cta/redirect/4384097/411ccb55-f57f-47d3-b9ec-af568b652db5) ## VarSome's CNV classifier explained Charles Chapple, PhD, VarSome's Head of Bioinformatics, demonstrates the power of VarSome's automated implementation of ACMG guidelines for CNV interpretation. ![APP note1](https://landing.varsome.com/hubfs/APP%20note1.jpg) ## Introduction In addition to short variants, targeted sequencing can also be used to detect CNVs. This is usually performed by read depth analysis assuming that the number of sequenced DNA fragments is proportional to the copy number of a particular genomic locus. This approach is inaccurate in cases of small CNVs spanning only few or even a single exon. Target enrichment library designs developed by Agilent Technologies provide a solution to overcome this limitation by the inclusion of so-called “exon-proximal regions”. ![Materials and Methods](https://landing.varsome.com/hubfs/samples1.jpg) ## Materials and Methods NGS libraries were generated using Agilent SureSelect hybridization-based target enrichment technology. Twenty-four Coriell Institute reference samples were sequenced on Illumina HiSeq2000. ![Results](https://landing.varsome.com/hubfs/results1-2.jpg) ## Results Analysis of exon-proximal region libraries in [VarSome Clinical](https://varsome.com/varsome-editions/varsome-clinical/) enables robust exon-level CNV detection. Exon-proximal regions increase the accuracy of CNV breakpoint assignment. The intuitive interface of VarSome Clinical enables easy inspection of individual CNV calls. ![CNV Classification](https://landing.varsome.com/hubfs/browsing-cnv-samples.gif) ## CNV Classification Since publishing this application note, we have added a new CNV Classification tool to help you apply ACMG variant interpretation criteria to your samples. Find out more [here](https://youtu.be/eGMmbR2SPlU)or [contact us](https://landing.varsome.com/contact) to schedule a demo. ###### Interested in our Solutions? ## Get in touch for a demo and consultation Loading... ## Latest News [See all blog posts](https://blog.varsome.com) ![](https://landing.varsome.com/hubfs/VarSome_February2020%20Theme/Images/logo.png) - VarSome Suite - [VarSome.com](https://saphetor.com/varsome-editions/varsome/) - [VarSome Premium](https://saphetor.com/varsome-editions/varsome-premium/) - [VarSome Clinical](https://saphetor.com/varsome-editions/varsome-clinical/) - [VarSome API](https://varsome.com/information/varsome-api-info/) - System Status - [System Status](http://status.saphetor.com/) - Resources - [Query Examples](https://varsome.com/about/examples/) - [Documentation](https://docs.varsome.com/) - [Help Center](https://docs.varsome.com/en) - [Cite VarSome](https://news.varsome.com/en/cite-varsome-the-human-genomic-variant-search-engine) - The Company - [About Saphetor SA](https://saphetor.com/about/) - [News](https://blog.varsome.com) - [Distributors](https://landing.varsome.com/distributors) - [Contact](https://saphetor.com/contact/) - Legal - [Terms of Use](https://varsome.com/terms/) - [Privacy Policy](https://varsome.com/privacy/) VarSome Suite is brought to you by [Saphetor SA](https://saphetor.com). © 2024 Saphetor SA – All Rights Reserved.