Visit us at ESHG 2024 in Berlin!

We are excited to welcome you in Berlin at our booth 462 at ESHG 2024.
Discover the new features in SEQUENCE Pilot...

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Highlights: Jump function, WES without a bed file, simplified Fusion analysis with intra gene fusions

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  • Marcel Nelen, Head of the division Genome Diagnostics Radboud University, Nijmegen

    "If there is a discrepancy we want to know who came to this conclusion and why. Thus, contact information is very important. If it is about publishing, the same argument holds true.
    If you only have one patient it might not be published at all. Contact the lab(s) who have identified this rare variant and publish together.
    It may take years to find a second patient in your local hospital."