Bioinformatician - Genomics
Bioinformatician (Genomics)
Responsibilities
- Lead the design, development, validation, and upkeep of bioinformatics pipelines supporting clinical genomic testing services
- Conduct end-to-end genomic and multi-omics data analysis (NGS, WES/WGS, ctDNA, PGx, MRD, PRS), including interpretation for clinical reporting
- Build, optimise and maintain robust, scalable, and reproducible workflows, tools, and databases for high-throughput operations
- Develop pipelines using Python, R, Bash, Linux, and workflow engines (Nextflow/Snakemake), including custom tool development
- Collaborate with clinicians and multidisciplinary teams to deliver accurate, clinically actionable insights and reports
- Integrate diverse data sources (clinical, internal, public) for variant classification and evidence-based recommendations
- Deploy and manage pipelines on local/cloud/HPC infrastructure, ensuring performance, security, and compliance
- Drive adoption of emerging technologies (AI/ML, long-read sequencing, advanced analytics) and support validation efforts
- Ensure adherence to regulatory, quality, and data governance standards (e.g. CAP, HCSA, PDPA), including audits and documentation
- Provide scientific leadership, mentorship, and research contributions, including publications, grants, and innovation initiatives
Requirement
- PhD (or equivalent experience) in Bioinformatics, Computational Biology, Molecular Biology, or related field
- 4-8 years experience in clinical/translational genomics with pipeline development and next generation sequencing analysis
- Strong programming skills (Python, R, Bash, C/C++) and experience building reproducible workflows (Nextflow/Snakemake/WDL/CWL)
- Hands-on expertise in NGS data analysis (alignment, variant calling, CNV/SV detection, annotation) and genomic databases
- Proficiency in Linux/Unix, Git, and experience with HPC or cloud computing environments
- Track record in publications, presentations, or assay/method development is advantageous
- Solid understanding of statistics, data science, and quality control in genomic assays
- Excellent problem-solving, organisation, and attention to detail, with focus on scalability and reproducibility
- Strong communication and collaboration skills, able to work with clinicians, scientists, and IT teams