Resources
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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varvis® blog
Can long-read sequencing replace array diagnostics in clinical routine?
by Dr. Ben Liesfeld, June 18, 2026
This white paper highlights how long-read sequencing is emerging as a strong alternative to array-based diagnostics in clinical genomics. It also explains how combining structural variant (SV) calling with coverage-based CNV analysis enables comprehensive detection across variant types, and how the varvis® platform brings these capabilities together in a unified long-read workflow.
Huntington’s disease: from understanding repeat instability to editing the genetic code
by Dr. Roberta Trunzo, April 14, 2026
Huntington’s disease (HD) has long been known as a genetic disorder caused by CAG repeat expansions in the HTT gene. Yet for decades, one key question remained unanswered: Why does the mutation remain silent for years, only to trigger neurodegeneration later in life? Recent discoveries have reshaped our understanding — and, for the first time, offered a way to intervene at the genetic level.
Elena is unstoppable
by Ulrike Schmidt, February 27, 2026
Each year, Rare Disease Day offers the human genetics community a special opportunity to raise awareness of rare diseases and the people living with them. This year, we would like to introduce you to Elena Semechin, a two-time Paralympic winner, and our partnership.
