How To’s & Advanced Workflows

Automating & Standardizing Your NGS Workflow: Part I

Aug 5, 2019

Secondary Analysis with Sentieon: Rapid and Accurate Variant Calling This blog post will cover the utilization of secondary analysis tools to produce a list of high-quality variants and associated coverage data. This data will serve as the main, importable content for the tertiary stage of analysis where variants are interpreted…

Read more →

Automating & Standardizing Your NGS Workflow

Jul 30, 2019

As our regular customers may know, we write our blogs to provide relevant content to any NGS-based analysis with VarSeq. Our goal here at Golden Helix is to provide top quality software and guidance on how to use the software efficiently to perform variant analysis. However, this blog series will…

Read more →

Shared Data in VarSeq

Jul 22, 2019

When using VarSeq; annotations, application settings, and assessment catalogs are all stored locally. Sometimes these resources can grow to large space grabbing directories, causing you to either purchase additional storage devices or getting rid of previously downloaded resources you might need down the road. But there’s hope! You can set…

Read more →

VarSeq Variant Annotation Normalization

Jul 18, 2019

Smoothing Hurdles into Speed Bumps when creating Annotation Sources Although most researchers assume that getting the pile of VCF sequence files is the largest hurdle in moving towards an analysis, there still exists the looming step of normalizing the variant calls in annotation sources to make variant comparison easier. In…

Read more →

Clinical Variant Analysis for Cancer: Part V

Jul 2, 2019

Clinical Variant Analysis for Cancer – Applying AMP Guidelines to Analyze Somatic Variants Detecting cancer at an early stage can make it much more treatable. Developing tests and making them clinically actionable is crucial to beat this disease. This eBook covers the state-of-the-art gene panel tests for cancer, walking through…

Read more →

Clinical Variant Analysis for Cancer: Part IV

Jun 25, 2019

Clinical Variant Analysis for Cancer – Applying AMP Guidelines to Analyze Somatic Variants Somatic variants can manifest in different ways: There is a difference between the interpretation of germline and somatic variants. The former is exclusively focused on establishing the level of pathogenicity vis a vis a particular disease. In…

Read more →

Clinical Variant Analysis for Cancer: Part III

Jun 18, 2019

Clinical Variant Analysis for Cancer – Applying AMP Guidelines to Analyze Somatic Variants As described in my eBook “Genetic Testing for Cancer,” any bioinformatic pipeline for cancer ultimately calls variants based on the aligned reads that the sequencer generated. Variant calling is the process of reviewing a sequence alignment, typically…

Read more →

Clinical Variant Analysis for Cancer: Part II

Jun 13, 2019

Clinical Variant Analysis for Cancer – Applying AMP Guidelines to Analyze Somatic Variants Analogous to the ACMG guidelines for germline mutations, the Association for Molecular Pathologists (AMP) has issued guidelines to assess and report on somatic variants, and AMP classification is a core component of any structured cancer variant workflow.…

Read more →

Variant Interpretation with VSClinical: Evaluation of an X-linked Recessive Mutation

May 21, 2019

Overview VSClinical enables users to evaluate variants according to the ACMG guidelines in a high-throughput fashion and obtain consistent results and accurate variant interpretations. This feature is tightly integrated into our VarSeq platform as well, and when paired together, users can evaluate NGS data and obtain clinical reports all in…

Read more →

Variant Interpretation with VSClinical: Clinical Example for Congenital Indifference to Pain

May 16, 2019

VSClinical provides a rapid-fire way to investigate any variant’s impact by following the ACMG Guidelines process for classification. We will be demonstrating this by looking at interesting examples of rare disorders and showcasing some evaluation steps users may deploy in their analysis. Our first example in this blog series is…

Read more →

Automating Clinical Workflows: Part III

Apr 19, 2019

In the previous two articles, we explored the different steps of a clinical workflow. The first post covered the automated analysis that creates a VarSeq project. While the second post covered the interpretation steps and generation of a clinical reporting output. These posts illustrated the ease with which these complex…

Read more →

Automating Clinical Workflows: Part II

Apr 11, 2019

In the previous blog post, we covered the automated steps to create a VarSeq project. Today we will examine the active analysis steps. These are the steps that require human interpretation to analyze the clinically relevant variants. A lab tech can take the first pass at the output in the…

Read more →

Automating Clinical Workflows: Part I

Apr 3, 2019

Automating a clinical workflow creates a stable and repeatable clinical analysis, streamlining everything from variant filtering through clinical reporting. Automation reduces the potential to introduce human error, helps in regulatory compliance, and improves the precision of the clinical results. It is important to know that if you run a sample…

Read more →

Clinical Variant Analysis: Part I

Feb 19, 2019

Clinical Variant Analysis – Applying ACMG Guidelines to Analyze Germline Diseases The clinical interpretation of genetic variants is time-consuming and requires strict attention to detail. Clinicians must thoroughly review any variants that could potentially cause disease using a complex set of guidelines. There are guidelines for the interpretation of variants…

Read more →

How To: VarSeq VCF Import

Feb 5, 2019

The Beginning of Your Tertiary Analysis VarSeq is designed to be your NGS tertiary analysis solution providing users simple but in-depth means of exploring gene panel, exome, and whole genome variants. For those not accustomed to the VarSeq software, the main import file for variant analysis is the VCF. Those…

Read more →

Top-Quality GWAS Analysis: Part V

Jan 28, 2019

As our final part of the ‘Top-Quality GWAS Analysis’ blog series, we will be giving a summary of the values behind GWAS quality control and quality assessment. Performing GWAS can provide insight into the association of genetic variants with traits and complex disorders. Any novel insights into marker-phenotype associations need…

Read more →

Top-Quality GWAS Analysis: Part IV

Jan 24, 2019

Population Stratification This article is going to cover how to factor for population stratification in your association test to continue our blog series on top quality GWAS analysis (additional articles for this series are located at the bottom of this blog). Quality control steps up to this point have included…

Read more →

Top-Quality GWAS Analysis: Part III

Jan 22, 2019

Sample Relatedness Pruning your data based on Linkage Disequilibrium (LD) values and filtering for sample “relatedness” are ideal quality assurance steps following the marker and sample quality filtering described in Part II of this blog series. The value of running an Identity by Decent estimation not only allows you to…

Read more →

Top-Quality GWAS Analysis: Part II

Jan 18, 2019

Eliminate Low-Quality Samples and Markers In Part I of this GWAS Analysis series, Dr. Eli Sward provided us with a great overview on the value SVS provides in managing the quality of your SNP or NGS data to maintain the high power and accuracy of your GWAS. He also gave…

Read more →

Considerations When Calling CNVs on Shallow Whole Genomes

Dec 20, 2018

We are happy to announce that our latest version of SVS includes the ability to call CNVs on low read depth Whole Genome Sequencing (WGS) data. Designed for calling large cytogenetic events, this algorithm can detect chromosomal aneuploidy events and other large events spanning one or more bands of a…

Read more →