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Archive of posts tagged pathogenic mutations

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” […]