NEWS

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Highlights: New ACMG/AMP criteria workflow with documented rationale, Transparent evidence overview & final classification, Reproducible...

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Experience the new SEQUENCE Pilot version 5.4.3!

 

This update delivers numerous enhancements designed to make your analysis more efficient and...

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CUSTOMER REVIEW

  • 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    If you only have one patient it might not be published at all.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."