Search results for “CNV”

Bring the Value of VS-CNV to Genomic Research in SVS

Jan 4, 2018

The Golden Helix SNP & Variation Suite (SVS) platform is a powerful and versatile set of tools and algorithms for performing genomic research. That research spans from data originating on genotype micro-arrays to next-generation sequencing. While the majority of SVS users start with genotype data on their samples, any genomic…

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Annotation Education Series: CNV Annotations

Nov 9, 2017

With the recent upgrade to VarSeq 1.4.7, users gain access to some new great features. Among the additions are new CNV annotations (Figure 1). In this final chapter of the annotation blog series, we are going to provide descriptions of the new CNV annotations and how they can be used.…

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VarSeq Updated with CNV Annotations, CNV PhoRank and Region Assessment Catalogs

Oct 19, 2017

VarSeq Updated with CNV Annotations, CNV PhoRank, and Region Assessment Catalogs This year we have released multiple advances to support CNV analysis in VarSeq, expanding our target region based VS-CNV caller to handle exomes and low-depth genomes as well as additional supporting algorithms like calling Loss of Heterozygosity regions. To…

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All of your VS-CNV annotation questions answered

Oct 12, 2017

This month we hosted two, incredible webcasts officially announcing the latest CNV annotation capabilities our Software Engineering Team has been hard at work on for the past couple of months. Our first webcast, Comprehensive Clinical Workflows for Copy Number Variants in VarSeq, was presented by Golden Helix’s VP of Product…

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CNV Annotation Clinical Workflows Webcast: Q&A

Sep 28, 2017

  Gabe Rudy gave a fantastic presentation yesterday on the latest additions to VS-CNV annotations. If you weren’t able to join us for the live event, you can access the recording and webcast slides here: Comprehensive Clinical Workflows for Copy Number Variants in VarSeq. Additionally, there were many great questions asked…

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Frequently Asked Questions: CNV analysis in VarSeq

Jul 20, 2017

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…

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CNV Caller Updates and More with VarSeq 1.4.5

Jun 22, 2017

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…

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Calling Cytogenetic CNVs from Shallow Whole Genomes

Jun 21, 2017

Low read depth? Great! We are excited to introduce our new CNV calling algorithm for low and ultra-low read depth Whole Genome Sequencing (WGS) data. This algorithm is designed to call large cytogenetic events with high confidence from low read depth whole genome data, with as few as one million…

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CNV User Perspective Webcast Q&A

Apr 20, 2017

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 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:…

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CNV Analysis in VarSeq – A User’s Perspective

Apr 6, 2017

We are pleased to announce our next webcast, CNV Analysis in VarSeq – A User’s Perspective. The live event is is scheduled for Wednesday, April 19th at noon EST. Here are the specifics: Wednesday, April 19th 12:00 pm EST Clinical labs must have the ability to go from a collection…

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PreventionGenetics adopts Golden Helix CNV analysis

Mar 21, 2017

Today, I am happy to announce the introduction of VS-CNV for Gene Panels and Exomes. We have developed this capability in partnership with PreventionGenetics. PreventionGenetics will use VarSeq CNV for analysis of gene panels, and in the future for exome sequencing. The software gives PreventionGenetics the opportunity to conduct a comprehensive CNV…

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Calling Large LOH and CNV Events with NGS Exomes

Feb 22, 2017

We are pleased to announce our next webcast, Calling Large LOH and CNV Events with NGS Exomes. The live event is scheduled for Wednesday, March 8th at noon EST. Here are the specifics: Wednesday, March 8th 12:00 pm EST Next Generation Sequencing Exomes are a powerful assay used in both clinical…

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ExAC CNVs: The First Large Scale Public Exome CNV Variant Set

Dec 8, 2016

ExAC CNVs were released publicly with a recent publication, providing the full set of rare CNVs called on ~60K human exomes. While there are many public CNV databases out there, this is the first one that was derived from exome data, and thus includes both extremely rare and very small CNV…

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WEBCAST: CNV Analysis with VarSeq

Nov 22, 2016

December’s webcast will provide the Golden Helix community with a more in-depth look at CNV analysis in VarSeq. On December 7th, Dr. Nathan Fortier will discuss the challenges and metrics surrounding CNV detection and then demonstrate VarSeq’s new capability from VCF to clinical report.  Wednesday, December 7th @ 12:00 PM, EST Numerous…

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Why Call CNVs: Getting More from your NGS Data

Oct 11, 2016

Copy Number Variants have been important to clinical genetics for quite a while now. So, what has made now the right time to be looking at calling CNVs from NGS data? Well, there are a number of good reasons. The dominant one is simply that the NGS data you are…

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Upcoming Webcast on CNV Calling of Target Regions

Sep 27, 2016

Copy Number Variations (CNVs) play an important role in human health and disease, and the detection of CNVs in clinical samples has the potential to improve clinical diagnoses and inform treatment decisions. Yet until now, if you wanted to have CNVs on your targeted gene samples, you would need an…

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Updates to CNAM Make SVS the Fastest and Most Accurate Copy Number Tool for Common and Rare CNVs

Mar 16, 2011

A recent email from a user of SVS: “Your CNAM Optimal Segmentation algorithm is by far the best I ever used and believe me, I’ve tried many. Great use of the GPU for segmentation – it is 3x faster than using my 8 CPUs alone and 25x faster compared to…

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Recent Publications on Schizophrenia, Cocaine Abuse, Childhood IgA Nephropathy, CNV Regions, and Genetic Variants in Metabolic Traits

Jan 5, 2011

Happy New Year! Golden Helix customers published 92 papers in 2010 unveiling new associations and novel findings using SNP and Variation Suite – a great feat for all! We anticipate an even more “significant” 2011. Wrapping up last year, congrats to Subba Rao Indugula, Guangyun Sun, and Ranjan Deka over…

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CNV Analysis Tips for Illumina Data

Nov 24, 2010

Please see our updated tutorials for CNV Analysis by visiting: https://www.goldenhelix.com/resources/SNP_Variation/tutorials/index.html The following statement is representative of a common question that is posed to the Golden Helix support team: “I followed all of the steps in the SVS7 CNV analysis tutorial, but my results seem kinda funny. The segment means…

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Your Variant Knowledge Base

Apr 9, 2026

Getting the Most from Assessment Catalogs in VSWarehouse One of the most frequent questions from our customers is some version of: “How do we keep our team from re-evaluating the same variant every time it shows up in a new sample?” The answer, in nearly every case, is assessment catalogs and more…

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