NEWS

JSI Duck is conducting the survey

We invite you to participate in our annual survey to share your thoughts and opinions on SEQUENCE Pilot with us. By taking 5 minutes to complete the...

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

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    If you only have one patient it might not be published at all.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