Required Experience and Skills:
- 5+ years’ experience in genetics/oncology or an equivalent is required
- D. in bioinformatics, computational biology, genetics, genomics, molecular biology
- Genetic and molecular understanding of human disease
- Good understanding of genomic databases and annotations tools
- Proficient understanding of cancer biology and signaling pathways
- Aware of ACMG, NCCN, ASCO and ESMO guidelines
- An understanding of bioinformatics analysis to identify variants within genomic data sets
- Proficiency in communicating and understanding of genetic variant details
- Experience with cloud computing in AWS, parallel computing, and big data
- Experience with SQL databases
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
- Maintain specifications and monitor day-to-day operations of the literature searching and triage pipelines and various error-checking processes