Genetic Data Warehousing e-Book In our webcast last week, we announced the upcoming release of VSWarehouse, a scalable genetic data warehouse for VarSeq. Genetic data warehousing becomes more important as Next-Generation Sequencing is taking off in the clinic, creating significant data management issues for clinicians, scientists and IT professionals alike. How can we retain the massive amounts of data coming out… Read more »
So, why are we launching a new data warehouse product? Why did we build VSWarehouse? According to Grand View Market Research, the next generation sequencing (NGS) market size was $2.0 billion (USD) globally in 2014. This number is expected to grow from 2015 to 2022 at an annual rate of about 40%. What drives this phenomenon is the increasing number… Read more »
I hope your 2016 is off to a good start! We at Golden Helix have been busy preparing and planning new and updated content for the community. First up is an updated GWAS ebook which includes a sample Meta-analysis example project. In the 2nd edition, we start with an introduction to GWAS exploring its biology and origins as well as… Read more »
There is no doubt that we have big data in the field of genomics in general and Next Generation Sequencing specifically. Illumina’s latest HiSeq X can produce 16 genomes per run, resulting in terabytes of raw data to crunch through. Yet all that crunching is not the hard part. So, what is the main obstacle to scientists being able to… Read more »
Golden Helix in 2016 We had a terrific year 2015. It was the year in which we got serious about the clinical testing market. We successfully continued on the path of attracting more referenceable clients such as University of Iowa, Baby Genes, Prevention Genetics and many more. We rounded out our VarSeq suite by adding more clinically relevant features and… Read more »
Bipartisan Budget Act of 2015 Passed! We at Golden Helix, and I are certain that many in our community, are more than pleased to hear that President Obama has signed the “Bipartisan Budget Act of 2015“. Most importantly, the budget agreement raises discretionary spending by $80 billion in fiscal years 2016 and 2017 which should create room for increased spending… Read more »
While stand-alone SVS is an amazing statistical software package for genomics analysis, adding additional Python scripts to the program can expand SVS’s genomic analysis capabilities. In this post, I’ll take you through the most frequently downloaded Add-On Scripts for SVS and the top five were not what I expected! Coming in at Number Five is the script Convert Dosages to… Read more »
The next release of VarSeq will ship a new product that is highly relevant to our customers in clinical testing labs. Via VSReports, VarSeq now has the ability to generate clinical-grade reports. These reports are fully customizable, containing focused and actionable data. VS Reports ships with report templates that are modeled off of the ACMG guidelines, the de-facto gold standard… Read more »
Precision Medicine e-Book “It’s far more important to know what person the disease has than what disease the person has.” – Hippocrates (460 BC – 370 BC) Almost 2,500 years ago, Hippocrates captured one of the key principles underlying precision medicine. In the 21st century we take the understanding of the individual characteristics of a person to a new level…. Read more »
GWAS became possible about 10 years ago as the result of several scientific advances. Since then, GWAS has continually developed as a primary method for identification of disease susceptibility genes in humans and other organisms. At Golden Helix we are proud of our history in supporting GWAS analysis from its inception. Our software was used to analyze whole-genome data from… Read more »
Recently, Golden Helix, Inc. announced the addition of VSPipeline to our VarSeq software suite. VSPipeline is a command-line interface that will allow high throughput environments the ability to tap the full power of VarSeq’s algorithms and flexible project template system from any command line context, including existing bioinformatics pipeline. So, what is the big deal? Here are the top five… Read more »
Just a few weeks ago we announced our partnership with MedGenome. The news was covered by a number of outlets including: Financial Express Pharmabiz Let me expIain the importance and impact of this announcement. Since Varseq was released, we have received strong interest from testing labs that are leveraging our product to implement cancer diagnostic pipelines. Please feel free to take… Read more »
Regulatory Issues Regulatory bodies such as the Federal Drug Administration (FDA) already have a full plate. In the US, FDA-regulated products account for 20 percent of each dollar spent by American consumers each year. More specifically, the work of the regulatory authorities include the following: Carefully considering benefits and risks when evaluating medical products Staying on top of rapidly advancing scientific innovations… Read more »
The Educational Challenge Precision medicine will fundamentally change how health care is practiced. Of course, we have a long way to go. For most practitioners today, their knowledge of the human genome was established many years ago. However, new therapies and diagnostic methods are pouring in on a daily basis. So, how do we make sure that the current and… Read more »
Bioinformatics Pipelines and Systems Infrastructure The genetics industry is undergoing a fundamental shift from a clinical science focus to a bioinformatics focus. Genetic services require a greater level of data analytics sophistication than is required for other laboratory testing. Currently, data generated by new tests overwhelms current information technology systems and human interpretation capabilities. This is one of the reasons… Read more »
Tailoring diagnostic and therapeutic strategies Many have called Sir William Osler (1849-1910) the “Father of Modern Medicine”. He was one of the four founding professors of Johns Hopkins Hospital where he was instrumental in creating the first residency program for the specialty training of physicians. He brought medical students from the classroom to the bedside for clinical training. He shared… Read more »
Precision Medicine Initiative On January 30, 2015, the Precision Medicine Initiative was announced by President Obama. Many in our field, researchers and clinicians alike, recognize that such a program would bring additional funding into our space to design, develop and implement new diagnostic tests that are aiding physicians in their practice of precision medicine. Here is what we know. Led by the National Institutes of Health (NIH),… Read more »
Last week we conducted a webcast on “Cancer Gene Panels”. We had some excellent questions which we answered during the webcast and a few more that we didn’t get to in the allotted time. Please find answers to those questions here: 1. Are Cancer Gene Panels just another stepping stone on the way to whole exome/genome analysis? Cancer gene panels answer… Read more »
It was a great trip down to Florida this year. AGBT 2015 was an exciting event with lots of great presentations. For us in this tightly-knit community it is an excellent networking opportunity to catch up with existing clients and partners, but also to make new connections. Now, it is impossible to reflect on all the great talks. We were… Read more »
Personal genome sequencing is rapidly changing the landscape of clinical genetics. With this development also comes a new set of challenges. For example, every sequenced exome presents the clinical geneticist with thousands of variants. The job at hand is to find out which one might be responsible for the person’s illness. In order to reduce the search space, clinicians use various methods… Read more »
