The improved algorithm has an accuracy of 96.4%, which was trained on approximately 200.000 real splice sites taken from GRCh37 and 300.000 false...

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Some of the highlights: Trioanalysis, jumping option to varSEAK and all available public SNP databases, Sequence Ontology Annotations...

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    If you only have one patient it might not be published at all.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