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Aga Khan University Hospitals in Karachi, Pakistan and Nairobi, Kenya are private, not-for-profit institutions providing high quality health care. The Main Hospitals serve as the principal sites for clinical training for the University's Medical Colleges and Schools of Nursing and Midwifery in Pakistan and East Africa.
Our Vision of Aga Khan University Ho...
Job Summary
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
- 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
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Job Purpose:
To develop, implement and support software applications in accordance with information systems requirements of the organization and ensure that software applications are available for use 24/7.
Responsibilities:
- Develop and implement In-house software applications by gathering system requirements, designing, developing, and implementation of the system.
- Analyze system issues reported by users and provide solutions
- Develop systems documentation for In-house Applications in use.
- Conduct Quality assurance(QA) Testing for Business Application modules before deployment
- Coordinate UAT (User Acceptance Testing) with the business process team.
- Develop and support system integration interfaces.
- Work with the Infrastructure team and Database administrators to ensure that Databases and applications are backed up for business continuity
- Ensure availability of software applications to users and resolve system issues reported.
Qualifications and skills required:
- University degree in Computer science or information Sciences and/or minimum Diploma in Computer science or equivalent
- Professional Qualification in Systems analysis and Design Desirable.
- Microsoft Professional certifications or Oracle Certifications are desirable.
- Minimum of 3 years experience in supporting an internal programming/intranet environment with solid experience in Business Applications support.
- At least 2 years of programming experience in .NET, Microsoft .NET technologies, Oracle RDBMS and SQL Server.
- Solid experience in Microsoft technologies especially as applicable to Web Applications and Mobile applications development.
- Self-motivated, enjoy problem-solving, solution development, and system integration challenges, and excels in a fast-paced, team-oriented environment.
- Good troubleshooting skills and ability to work independently and proactively
- Excellent verbal and written communication; effective liaison skills and the ability to work with a wide range of professionals in various disciplines.
- Good Customer service skills and results-oriented with attention to detail and problem-solving skills
- Professional grooming and self-presentation