Aga Khan University Hospital is seeking a Clinical Bioinformatician for its Cancer Centre. The Clinical Bioinformatician will be responsible for analyzing and interpreting high-throughput genomic data to support accurate diagnosis and improved understanding of rare genetic disorders and cancer. The role involves processing and quality control of Next Generation Sequencing (NGS) data, identifying clinically relevant variants, and collaborating closely with laboratory scientists, clinicians, and genetic counselors to deliver high-quality, actionable genomic insights that inform patient care and research.
Responsibilities
Genomic Data Analysis and Interpretation
- Process and analyze NGS data from germline and somatic sources (e.g., whole exome sequencing, targeted panels).
- Perform quality control, alignment, variant calling, annotation, and filtering of sequencing data.
- Interpret and classify genetic variants based on clinical relevance using established guidelines (e.g., ACMG/AMP).
Clinical Reporting and Collaboration
- Collaborate with clinical laboratory scientists, physicians, and genetic counselors to review variant interpretations.
- Contribute to multidisciplinary discussions for patient case reviews.
- Participate with clinicians in preparing clinical reports that summarize genomic findings in a clear and actionable manner.
Data Management, Tools, and Pipeline Optimization
- Maintain and enhance bioinformatics pipelines and databases used in variant analysis.
- Implement best practices for data management, version control, and documentation.
- Evaluate new bioinformatics tools and methods to improve analysis accuracy and efficiency.
Research, Innovation, and Capacity Building
- Support research projects focused on rare genetic disorders and cancer genomics.
- Contribute to publications, presentations, and development of new analytical approaches.
- Provide training or mentorship to junior staff and students in genomic data analysis.
Requirements
Qualifications and Education
- Master’s degree in bioinformatics, Computational Biology, Genomics, Molecular Biology, or a related field.
- A PhD in a relevant discipline is an added advantage.
- Additional training or certification in clinical genomics, molecular diagnostics, or data science is desirable.
Experience and Skills
- Minimum 2–3 years of experience in clinical or translational bioinformatics, ideally with NGS data analysis.
- Proficiency with bioinformatics tools and programming languages (e.g., Python, R, bash, workflow managers like Nextflow or Snakemake).
- Experience with standard variant annotation and filtering tools (e.g., VEP, ANNOVAR, GATK, bcftools, samtools).
- Strong working knowledge of human genetics, including Mendelian inheritance, variant pathogenicity, and cancer genomics.
- Familiarity with clinical variant classification guidelines (e.g., ACMG, AMP, CAP).
- Excellent analytical and problem-solving skills.
- Effective verbal and written communication skills to present results to non-technical audiences.
Personal Characteristics & Behaviours
- Analytical and Detail-Oriented: Strong attention to accuracy and precision.
- Collaborative: Works effectively within interdisciplinary teams.
- Integrity: Maintains highest standards of confidentiality for sensitive patient genetic information.
- Organized and Accountable: Manages multiple analyses and reporting timelines efficiently.
- Effective Communicator: Able to clearly explain complex genomic concepts to non-specialists.
How to Apply
Interested and qualified candidates should apply online through the Aga Khan University recruitment portal. Visit aku.taleo.net to submit your application.
