Tag Archives: VarSeq

What’s in a Name: The Intricacies of Identifying Variants

There’s a strong desire in the genetics community for a set of canonical transcripts. It’s a completely understandable and reasonable thing to want since it would simplify many aspects of analysis and especially the downstream communicating and reporting of variants. Unfortunately, biology isn’t so tidy as to provide a clear answer for which transcript is the important one. Consequently, there… Read more »

VarSeq as a Clinical NGS Platform Q&A

CNV User

Our VarSeq as a Clinical Platform webcast last week highlighted some recent updates in VarSeq that support gene panel screenings and rare variant diagnostics. The webcast generated some good questions, and I wanted to share them with you. If the questions below spark new questions or need clarification, feel free to get in touch with us at info@goldenhelix.com. Question: Should… Read more »

Unique Labs, Common Tool: Making VarSeq Ready for Clinical Workflows

As VarSeq has been evaluated and chosen by more and more clinical labs, I have come to respect how unique each lab’s analytical use cases are. Different labs may specialize in cancer therapy management, specific hereditary disorders, focused gene panels or whole exomes. Some may expect to spend just minutes validating the analytics and the presence or absence of well-characterized… Read more »

Analyzing a Unique Family Structure in VarSeq 1.1.1

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 »

Call for Abstracts!

      Delaina Hawkins    December 11, 2014    1 Comment on Call for Abstracts!

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 »