I am constantly on the lookout for fun or interesting datasets to analyze in SVS or VarSeq and recently came across a study looking into inherited cardiac conduction disease in an extended family (Lai et al. 2013). The researchers sequenced the exomes from five family members including three affected siblings and their unaffected mother and an unaffected child of one… Read more »
As Andreas Scherer mentioned in his post last Tuesday, we will kick off our 2nd annual Abstract Challenge Monday, December the 15th. Here are the details. All academic, government, and commercial organizations world-wide working with genetic data (regardless of species) are invited to apply. Your project should be using DNA-Seq, RNA-Seq, SNP, or CNV methodology, as well as testing gene panels or searching… Read more »
If you’ve seen the recent webinars given by Gabe Rudy and Bryce Christensen, you’ve no doubt been impressed by the capabilities of VarSeq when it comes to annotation and filtering. However, we sometimes forget that the power that enables all this complex analysis can also be used in more mundane tasks like VCF subsetting. And although these day-to-day tasks don’t… Read more »
To say the announcement of Dan MacArthur’s group’s release of the Exome Aggregation Consortium (ExAC) data was highly anticipated at ASHG 2014 would be an understatement. Basically, there were two types of talks at ASHG. Those that proceeded the official ExAC release talk and referred to it, and those that followed the talk and referred to it. Why is this… Read more »
We are shortly approaching the public launch (November 5th!) of our first clinical product, VarSeq. We could not have predicted how well the market would accept VarSeq – but we couldn’t be happier! For those of you who have not yet seen our newest product in action, I invite you to register for tomorrow’s webcast: The Golden Helix VarSeq User Experience.
To make a long story short, we had a blast at ASHG14. The traffic at our booth was terrific. Every day we had scheduled presentations on VarSeq, SVS, and GenomeBrowse which were very well attended. And of course, there were our new t-shirts. The new designs were well received. If anything we promise to bring more next year. In particular more… Read more »
In our latest webcast (which introduced our newest product, VarSeq), Dr. Andreas Scherer, President and CEO of Golden Helix, announced the completion of 2 e-Books; one entitled Clinical Next-Gen Sequencing Analysis and one GWAS. Dr. Scherer published these e-books as part of Golden Helix’s continued effort to provide educational content to our clients and the genetic community as well as to put a… Read more »
It’s that time of year again. The mornings are chilly, the leaves are falling, and ASHG is right around the corner. This year will mark my very first ASHG and I am really looking forward to meeting some of the Golden Helix community! The team has been hard at work preparing for a great conference and I wanted to give you… Read more »
The 64th annual ASHG meeting is coming up in just a few short weeks in San Diego. This year’s event will be an exciting one for Golden Helix as we present VarSeq, with the first demonstration on Sunday at 11:30 am in booth 422. After the demonstration we will have some great VarSeq t-shirts to give away – you will not… Read more »
Last week, our CEO Andreas Scherer announced our entrance into the clinical testing market with VarSeq. This week, I will be giving a webcast on Wednesday introducing this new tool and demonstrating its capabilities. (Register for the webcast) VarSeq’s focused purpose is making NGS gene testing and variant discovery efficient, scalable and accessible to users with a broad range of backgrounds and specialties. In this blog post, we will examine the use cases that VarSeq supports in more detail,… Read more »
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 outcomes, and to choose the best possible care option for a patient. Our part here at Golden Helix is to essentially build the equivalent of an MRI for the genome. In this process the latest… Read more »
