Category Archives: How to’s and advanced workflows

Greta Linse Peterson

GxE Regression Option to be Available in SVS

We are pleased to announce that another one of the most asked for features is going to be a part of our SNP & Variation Suite™ software, Gene by Environment Interaction Regression (also known as GxE Regression). Earlier this year … Continue reading

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Andrew Jesaitis

Coverage Statistics Come to VarSeq

A prerequisite for clinical NGS interpretation is ensuring that the data being analyzed is of high enough quality to support the test results being returned to the physician. The keystone of this quality control process is coverage analysis. Coverage analysis … Continue reading

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Bryce Christensen

Tumor/Normal Pair support now available in VarSeq!

VarSeq now supports analysis of paired Tumor/Normal samples! Tumor/Normal support has been one of the most common feature requests for VarSeq since it was launched late last year, and we are excited to make this functionality available to all of … Continue reading

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Ashley Hintz

Comparing Variants using a Venn Diagram

One of the lesser known functions in SVS allows the user to create Venn diagrams comparing variants found in multiple spreadsheets. These different spreadsheets could come from individuals samples, a case vs. control group or several variant databases. It is … Continue reading

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Bryce Christensen

Looking Beyond the Exons: Splice Altering Variants

There are many approaches that one might use to define a variant as potentially deleterious. For example, we often see analysis workflows based on rare, non-synonymous variants, perhaps incorporating additional annotation sources that capture known or predicted consequences of coding … Continue reading

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Cheryl Rogers

VarSeq as a Clinical NGS Platform Q&A

Our VarSeq as a Clinical Platform webcast last week highlighted some recent updates in VarSeq that support gene panel screenings and rare variant diagnostics. The webcast generated some good questions, and I wanted to share them with you. If the … Continue reading

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Ashley Hintz

Visually Filtering Data in GenomeBrowse

Over 650 GenomeBrowse licenses have been registered and downloaded since the beginning of 2015, and with so many people enjoying the utility of this freeware program, I wanted to showcase some advanced tips and tricks so you can get more … Continue reading

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Ashley Hintz

Analyzing a Unique Family Structure in VarSeq 1.1.1

I am constantly on the lookout for fun or interesting datasets to analyze in SVS or VarSeq and recently came across a study looking into inherited cardiac conduction disease in an extended family (Lai et al. 2013). The researchers sequenced … Continue reading

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Cheryl Rogers

Q&A Surrounding Population-Based DNA Variant Analysis

Last month, Dr. Bryce Christensen presented Population-Based DNA Variant Analysis via webcast. The webcast reviewed the fundamentals of population-based variant analysis and demonstrated some of the tools available in SVS for analysis of both common and rare variants such as the … Continue reading

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Cheryl Rogers

Q&A from our December Genomic Prediction webcast

Our Genomic Prediction webcast in December discussed using Bayes-C pi and Genomic Best Linear Unbiased Predictors (GBLUP) to predict phenotypic traits from genotypes in order to identify the plants or animals with the best breeding potential for desirable traits. The … Continue reading

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