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