Required Experience and Skills:
  • 4 to 6 years of work experience variant interpretation, analysis and reporting
  • Master’s degree in bioinformatics, computational biology, genetics, or biotechnology
  • Genetic and molecular understanding of human disease
  • Good understanding of genomic databases and annotations tools
  • An understanding of bioinformatics analysis pipelines to identify genomic variants
  • Proficiency in understanding and interpretation of genetic variant details
Responsibilities:
  • Collect and integrate data from scientific literature published by clinical and human genome research groups
  • Documenting the effects of genomic variants and the association with disease, using controlled vocabularies, ontologies and established guidelines

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