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 and research settings to discover novel and rare small variants…. Read more »
In the last year, Golden Helix has received several honors. We attribute these great achievements to our customers and the community. As we strive to provide the best analytics software available for both researchers and clinicians, the continued support, praise and referrals are monumental in our success. Pharma Tech Outlook selected Golden Helix as one of the top 10 Pharma… Read more »
Since we released our Phenotype Gene Ranking algorithm in VarSeq, it has become a staple of the way people conduct their analysis. It allows for a combination of filtering with ranking to prioritize follow-up interpretations of analysis results. Our PhoRank algorithm will be available in our upcoming SVS release to also aid in the numerous research workflows performed on SNPs… Read more »
Join our upcoming webcast – Clinical Reporting Made Easy Wednesday, February 15th 12:00 pm EST Clinical labs need to be able to process samples down to a short list of variants and publish a professional report. VSReports helps scientists and clinicians alike create timely, actionable reports that can improve clinical decision making and streamline patient care by seamlessly incorporating the… Read more »
This Saturday, Plant & Animal Genome (PAG) XXV will kick off in sunny San Diego! Here in Montana, we have had a brutally cold winter thus far. I, like many of you, am looking forward to San Diego’s sunny, warm temperatures! Since last year’s PAG, SVS has had a number of updates including the integration of BEAGLE for imputation (coming soon!),… Read more »
Golden Helix closed out 2016 with a great honor; in December, The Silicon Review Magazine released a special edition naming Golden Helix as one of the fastest-growing technology companies for 2016. You can read the interview with our CEO, Andreas Scherer, Ph.D, here: Delivering industry-leading analytic software and services. We continue to believe that our customers are paramount in this honor, as… Read more »
Our webcast series for 2017 is starting off by giving the Golden Helix community their first look at our addition of genotype imputation into SVS! On Wednesday, January 11th, Gabe Rudy will discuss how users can now run their genotype phasing and imputation on human and animal data as part of their SVS analytics workflow. Wednesday, January 11th @ 12:00 PM, EST Genotype imputation… Read more »
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 studies have documented the role of Copy Number Variations (CNVs)… Read more »
It’s hard to believe that summer has already faded into fall and that ASHG 2016 is right around the corner! 2016 has been quite a busy year for us so far at Golden Helix. We have been working hard to bring our community the very best tools available for variant interpretation and SNP analysis. This year at ASHG, you can… Read more »
Gabe Rudy’s webcast yesterday, Big Data at Golden Helix: Scaling to Meet the Demand of Clinical and Research Genomics, was a huge success with well over 300 registered. In today’s blog post, I wanted to recap the Q&A session with Gabe. If you missed the webcast, check it out! Question: What is the end goal for an application like Warehouse? Answer: The… Read more »
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 by the thousands of thousands. The conventional attitude to big… Read more »
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 in chronic myelogenous leukemia (CML). Since then many more drugs… 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 »
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 »
Submit directly to N-of-One from VarSeq If you or your lab uses N-of-One solutions for clinical annotations, here’s some good news: You can now submit directly to N-of-One from VarSeq! N-of-One’s set of preferred transcripts may differ from those outputted by our algorithms in VarSeq, so our solution was built with that in mind. Our slick, easy to use, and… Read more »
Wednesday, May 11th 12:00 pm EDT VarSeq contains default workflows for Trio analysis which include filter chains for identifying de Novo and Compound Heterozygous variants, but what if you have data for a full Quad or even just a few siblings? How could your VarSeq workflow be adjusted to handle this custom family structure?In this presentation we will demonstrate how… Read more »
New breakthroughs are being made every day in genomics. It’s a dynamic and fascinating industry, and with exceptional growth forecasted in the DNA sequencing market, a new generation of people are entering the field: future researchers, clinicians, counselors and doctors. This new generation will need to learn not only the science, but also understand how to process the massive amounts… Read more »
