- Develop, manage, and document genome sequencing data analysis pipelines.
- Create and maintain databases of genomic information.
- Interpret genomic sequencing data to ensure the most accurate test result reporting.
- Contribute to designing, implementing, and reporting of NGS output.
- Assist with deploying and improving robust reporting of NGS results.
- Bachelor’s Degree in Bioinformatics, Medical Biotechnology, Biomedical Science, Genetics or other related fields, education from online courses, or proven practical industry experience.
- Strong understanding of molecular biology concepts relevant to Mendelian genetics, genomics, and transcriptomics.
- Familiar with public human genetics/genomics clinical databases and tools.
- Experience in handling NGS data generated from Illumina system.
- Proficient in programming with emphasis on developing workflows to handle, analyze, visualize and generate reports on large datasets.
- Experience with analyzing large data sets (Python, R, mapping tools, public genomic databases).
- Strong communication skills, and the ability to translate between scientifically rigorous statistical analysis and a general audience, in both directions.
- Highly motivated and able to work in a fast-paced, multidisciplinary, and collaborative environment.