Senior Variant Analyst

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