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The whole world of pathogenic mutations is now annotated by GeneTalk

We added annotations for all single nucleotice variants and small insertions and deletions that have been described in the literature as disease causing. There are over 60,000! You may now quickly screen your Exome or Whole Genome VCF file for such pathogenic mutations. Just filter your data and look whether there exists a “GeneTalk pathogenic” annotation for one of your variants.
In case you detect a mutation that has not yet been annotated by us, add an annotation for it by yourself. Add the tag “pathogenic mutation” and a pubmed link if available. If your annotation is scientifically solid, we will shortly include it into the GeneTalk pathogenic mutation set. This way we can ensure that the pathogenic mutation set is as up-to-date as possible. And do you know why? Because that is:


Screenshot Annotation