Next generation sequencing indeed created a wide universe of data and opportunities in clinical diagnostics. To help you navigate this universe with confidence, to exploit the full potential of the different applications and to enable a smooth take-off with our varvis® software, our team summarized some basic knowledge, expert tips and tricks, and latest insights for your convenience. We are here to support your onboarding with all the training you need.
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by Dr. Ben Liesfeld, January 25, 2023
There have been a lot of discussions about what IVDR Art 5(5) means for genetic diagnostic labs. In January 2023, the Medical Device Coordination Group issued a guideline that clarifies important items. This is our summary.
by Dr. Ben Liesfeld, August 19, 2022
Back in 2020 we were advertising hg38 as the better reference genome and highlighted potential challenges when transitioning from hg19 to hg38. More recently, the work of the T2T consortium revealed previously unknown shortcomings of hg38 which we will discuss here.
by Pragathi Prakash, April 8, 2022
When analysing large NGS assays usually dozens to hundreds copy number variants (CNVs) are expected. With integration of DGV, DECIPHER and the proprietary database allexes®, the varvis® software makes it easy to focus on the most significant variants.