Golden Helix Blog

Webcast on Big Data in Genomics

Sep 8, 2016

Wednesday, September 21st @ 12:00 pm EDT Every day, the trove of genomic data is growing. Clinics are sequencing targeted genes at high read depths to report out genetic tests. Research groups are adding new exomes and genomes to their disease-specific cohorts. Agricultural breeders are genotyping their herds and flocks…

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NGS-Based Clinical Testing: Part IV

Sep 6, 2016

After the Wet Lab process has been completed, the bioinformatics analysis of the sequencing data work begins. The next three blogs will focus on three aspects of this process. The building blocks of a bioinformatics pipeline, documentation and validation (today’s topic) Quality Management Clinical Reporting The Building Blocks of an NGS…

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NGS-Based Clinical Testing: Part III

Sep 1, 2016

Getting the NGS wet bench process right is not a small undertaking. Targeted NGS assays such as multigene panels or exome sequencing allow for the targeted analysis of genomic regions that are of particular interest. For every sample type, e.g. blood, formalin-fixed paraffin-embedded specimens, saliva etc, there must be a detailed…

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NGS-Based Clinical Testing: Part II

Aug 25, 2016

We have come a long way since Next-Generation Sequencing (NGS) evolved as a set of technologies in the 1970s. The higher throughput and rapid reduction of costs associated with NGS have lead to the accelerated adoption of clinical testing that we are experiencing today. Currently, it is applied to analyze…

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Personalized Medicine through Tumor Sequencing

Aug 23, 2016

Join us for a guest presentation Personalized Medicine through Tumor Sequencing by Dr. Jeffrey Rosenfeld! Wednesday, September 7th 12:00 pm EDT The identification of medications that target specific gene mutations is one of the major recent advances in cancer therapy. In 2001 Gleevec was approved to treat patients with the BCR-ABL fusion…

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FAQ: Creating Repeatable Clinical Workflows

Aug 18, 2016

Question: Now that I’ve added annotation sources for my sample, filtered down to a list of interesting variants, flagged those variants and generated a clinical report, can I save or copy the annotation sources and filters for use on another sample? Short Answer: Yes! Long Answer: VarSeq was created with…

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NGS-Based Clinical Testing: Part I

Aug 16, 2016

The adoption of genetic services is key to our ability to provide personalized medicine in the future. The goal is to better diagnose diseases, predict their outcome, and choose the best possible care option for a patient. We still have a long way to go to achieve this goal. While…

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Guest Webcast by Dr. Rohan Palmer

Aug 4, 2016

Dr. Rohan Palmer presents: Investigating Shared Additive Genetic Variation for Alcohol Dependence Wednesday, August 10th @ 12pm EDT Abstract: Molecular genetic research has supported the use of a multivariate phenotype representing alcohol dependence in studies of genetic association. One recent study found that additive genetic effects on Diagnostic and Statistical Manual…

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Compute Kinship Matrices & GBLUP on Very Large Sample Sets

Aug 2, 2016

Now available in SVS! Increasingly important in the analysis of the genotype to phenotype relationship is accurately accounting for the relatedness of samples. This is especially important to model correctly in plant and animal populations where man-directed breeding shapes the relationship structure. Along with trait association, one of the high-value…

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Precision Medicine Leverages Innovative Tech Advances

Jul 26, 2016

We are excited to announce that earlier this month an article by our CEO, Dr. Andreas Scherer, was featured in Chronicle Pharmabiz. The article is focused on how Precision Medicine is becoming a reality by leveraging the advances in technology. The excerpt below is courtesy of Chronicle Pharmabiz. Almost 2,500…

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Our 5 Most Watched Webcasts

Jul 21, 2016

Every month hundreds of clinicians and researchers access the variety of free resources on the Golden Helix website. Our resource library hosts eBooks, webcasts and tutorials to keep the community apprised of new methods, informed on best practices and to help our customers get the most out of their software purchase.…

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Custom Filtering using ClinVar Annotations

Jul 19, 2016

ClinVar is one of our most used annotations sources for a variety of workflows. It is also the public annotation source that is updated most frequently of all the sources currently supported in VarSeq. ClinVar provides new versions of their database once a month in several formats (XML, VCF, TXT).…

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Finding Rare Mutations at the Center for Rare Jewish Genetic Disorders

Jul 14, 2016

Since 1999, Bonei Olam has been providing large-scale funding for fertility treatment and research. The non-profit’s mission is to provide whatever means or resources necessary to help childless couples achieve the dream of parenthood. Today, it is recognized in the worldwide medical arena for its leadership role at the forefront…

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Variant Normalization: Underappreciated Critical Infrastructure

Jul 7, 2016

Variant Normalization: Underappreciated Critical Infrastructure It may surprise you to learn that every variant in the human genome has an infinite number of representations! Of course, although true, I’m being a bit hyperbolic to prove a point. Even seemingly simple mutations like single letter substitutions are legitimately represented differently in…

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Using Clinical Reports in a Gene Panel Pipeline

Jun 30, 2016

Upcoming Golden Helix Webcast: Using Clinical Reports as part of a Gene Panel Pipeline Wednesday, July 13th @ 12:00 pm EDT VarSeq Reports can be used as part of an automatic pipeline to quickly list variants with information that can be used to make actionable clinical decisions in a readable HTML…

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Understanding the Molecular Genetics of Hearing Loss

Jun 28, 2016

Hearing loss is the most common sensory defect in humans. It affects roughly 1 in 500 newborns, and by the age of 80 approximately 50% of people have some type of hearing loss. Hearing loss has become an enormous burden in healthcare. Perhaps more importantly, studies have shown that hearing…

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June’s Customer Publications

Jun 23, 2016

As spring ends and summer begins here in Montana, we wanted to share another round of customer publications. It’s so important to us that our software plays a role in our client’s success, and we love to display the fruit of their hard efforts each month. Here are a few of…

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Bioinformatics Program Key in Precision Medicine

Jun 21, 2016

The Bioinformatics Program at Rutgers Cancer Institute of New Jersey, the state’s only National Cancer Institute-designated Comprehensive Cancer Center, plays an integral part in the center’s precision medicine program helping to bring personalized medicine to patients in a timely manner. The Program needs to determine what mutations from a tumor…

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Whole Exome Sequencing workflows in VarSeq

Jun 14, 2016

Whole exome sequencing workflows using SNP & Variation Suite (SVS) was presented in a recent webcast, by Dr. Robert Hamilton from the Hospital for Sick Kids. In particular, he performed some filtering on his data to look for only heterozygous variants in his sample of interest, removed variants with allele frequency…

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Diagnosing Rare Disease at King Abdulaziz Medical City

Jun 9, 2016

King Abdulaziz Medical City (KAMC) in Riyadh commenced its operations in May 1983. Since then, it has continued expanding, while providing services for a rapidly growing patient population in all of its catchments areas. Today, King Fahad National Guard Hospital has evolved to be part of the King Abdulaziz Medical…

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