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    • A new tool for prioritization of sequence variants from whole exome sequencing data 

      Glanzmann, Brigitte; Herbst, Hendri; Kinnear, Craig J.; Moller, Marlo; Gamieldien, Junaid; Bardien, Soraya (BioMed Central, 2016-07)
      Background: Whole exome sequencing (WES) has provided a means for researchers to gain access to a highly enriched subset of the human genome in which to search for variants that are likely to be pathogenic and possibly provide ...