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 of Mental Disorder version four (DSM-IV) alcohol dependence criteria overlap,… Read more »
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 use cases for genotyping animals and plants is to estimate… Read more »
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 years ago, Hippocrates captured one of the key principles underlying… Read more »
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. Here is a list of the 5 most watched webcasts… Read more »
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). We use custom Python scripts to convert the provided VCF… Read more »
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 of reproductive medicine, research and technology. Specifically, Bonei Olam has… Read more »
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 the local context of other mutations that can be described… Read more »
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 format. Need to further filter the variants or add interpretation… Read more »
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 loss also affects one’s quality of life, lowering social interactions… Read more »
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 the publication highlights: Bradley Aouizerat of UCSF and colleagues published… Read more »
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 are relevant to a particular therapeutic option, bringing the right… Read more »
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 less than 0.005% based off of the ExAC Variant Frequency… Read more »
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 City with many other prominent medical centers. Since its inauguration… Read more »
When the new human reference genome was released over two years ago, it was hailed as a significant step forward for next generation sequencing. Compared to GRCh37, the new GRCH38 reference assembly fixed gaps, repaired incorrect sequences and offered access to sections of the genome that had been previously unaccounted for. Despite these improvements, adoption of the new assembly has… Read more »
The power of VSPipeline is in it’s ability to automate VarSeq workflows. Using VarSeq to create a pipeline template is great because it allows you to dial in the applied filters as well as interactively organize the annotations and applied algorithms. Automating a workflow with VSPipeline is straightforward when beginning with an existing project. However, there are several steps that… Read more »
Dr. James Fielding Hejtmancik and his team at the National Eye Institute’s Ophthalmic Genetics and Visual Function branch, use linkage and association studies to better understand the genetic mechanisms of inherited eye disease. The team investigates both Mendelian and complex diseases as well as functional work with a focus on cataracts, retinal degenerations, myopia and corneal dystrophies. “If it affects… Read more »
As the need to educate prospective healthcare professionals in the interpretation of genetic data increases, Dr. Jeffrey Moore at the University of Illinois – Urbana-Champaign is using genetics in his chemistry courses. In doing so, Moore is creating a strong connection between the content in his courses and the underlying principles of health and medicine. Last year, Dr. Moore presented a webcast… Read more »
I’m very glad I had the chance to attend ESHG 2016 in Barcelona and talk to so many people about Golden Helix and our software at our booth. ESHG may be the little sibling in size compared to ASHG, but my impression is that it punches above its weight in terms of advancing human genetics applicability to human health and… Read more »
Using Whole Exome Sequencing in distant relationships to identify cardiomyopathy genes Wednesday, June 8th 12:00 pm EDT Cardiomyopathy (DCM; MIM 115200) are myocardial diseases that are frequently hereditary, yet remain gene-elusive for 60% of affected families. Traditional gene discovery techniques dependent on multigenerational samples are difficult to apply. This is because 1. Disease is often impenetrant in the youngest generation,… Read more »
There used to be much energy expended at conferences, bioinformatics forums and even publications about what was the better strategy for interpreting variants of clinical significance: Rule-based filtering and classification mechanisms or rank-based prioritization through all-encompassing “pathogenicity” scores. Both have shown to be effective. Rule-based systems, as exemplified in this filtering diagram in Baylor’s ground-breaking paper on clinical whole-exome sequencing… Read more »
