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