Clinical Bioinformatician, Cancer Centre Job AKUH

Medical Jobs. Aga Khan University Hospital Jobs

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.

Qualifications

• 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.

Relevant Experience

• 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: Demonstrates strong attention to accuracy and precision when handling complex genomic data and variant interpretations.
• Collaborative: Works effectively within interdisciplinary teams of clinicians, laboratory scientists, and researchers, fostering open communication and shared goals.
• Maintains the highest standards of integrity and confidentiality when handling sensitive patient genetic information.
• Organized and Accountable: Manages multiple analyses and reporting timelines efficiently while maintaining thorough documentation.
• Effective Communicator: Able to clearly explain complex genomic concepts to non-specialist audiences, including clinicians and administrators.
• Committed to continuous improvement and adherence to clinical laboratory standards and best practices

How to Apply

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