Bioinformatics Scientist

The primary mission of MBRU is to provide excellence in medical education and research in the UAE and beyond.  The Genome Project (GP) is located at MBRU and is a population scale project that conducts large scale genome sequencing and translates the findings for future clinical use.

About the Role

The Bioinformatics Scientist will be a key member in analyzing genomic data and providing data analysis support to the GP Genomics Lab. This role requires a broad knowledge of bioinformatics and programming, paired with effective Next Generation Sequencing (NGS) data analysis skills. The role holder will work closely with a genomic scientist and the director in the GP Genomics Lab.

ORGANIZATIONAL ACCOUNTABILITIES

Organizational Commitment

• Instill trust in GP patients and families by maintaining confidentiality at all times.
• Partner in the mission and uphold the core principles of the organization.
• Demonstrate commitment to diversity and recognize the value of cultural ethnic differences.
• Role model personal and professional integrity at all times.

Quality Improvement

• Identify ways to improve operations through quality improvement and assist in the implementation of solutions.
• Contribute to a positive work environment.
• Demonstrate flexibility and willingness to change.
• Identify opportunities to improve clinical and administrative processes.

Teamwork/Communication

• Demonstrate collaborative and respectful behavior.
• Partner with all members of the healthcare team to achieve goals.
• Receptive to others’ ideas and opinions.

 Customer Service

• Anticipate and respond to customer needs, following up until needs are met.

Cost-Effectiveness/Fiscal Responsibility

• Demonstrate awareness of resource utilization and contribute to the achievement of cost-effectiveness.
• Continually work to identify and streamline processes of care, implementing solutions to impact time and cost-efficiency.

KEY ROLE ACCOUNTABILITIES

Research Practice

• Writing and packaging off-the-shelf scripts into custom pipelines for NGS data analysis.
• Build dedicated pipelines/workflows to generate novel insights to drive the Exome/Panel applications.
• Troubleshoot issues related to NGS/Microarray analysis software and database performance.
• Closely work with IT team to benchmark and establish computing and database resources, including a Lab Information Management System (LIMS), for the genomics lab.
• Design, validate, improve, maintain, and apply tools and pipelines for the management and analysis of large amounts of new generation sequencing data-in particular, whole genome and whole exome data.
• Design, develop, and maintain databases of genetic variants identified through NGS in large collections of the individuals.
• Manage the computing environment, storage and software for the Al Jalila genomics lab.
• Maintain SOP documentation of NGS bioinformatics pipeline.
• Implementation of Copy Number Variant (CNV) calling from NGS data.
• Maintain data analysis pipelines/workflows, monitor quality metrics and analyze data sets.
• Curate disease, gene, and variant knowledge. Help implement curated knowledge, resources, and workflows into clinical operations.
• Development of automated analysis methods to assess quality control at each level of our process – e.g. Data QC, variant, and annotation.
• Maintain a professional level of knowledge of genetics to maintain state-of-the-art analyses and workflows.
• Work with database and system administrators to implement and optimize methods for data input, storage, retrieval, and reporting.

Professional Practice Development

• Identify self-learning needs and take initiative to meet those needs.
• Strive to expand the depth and breadth of technical and professional skills.
• Act as a preceptor/mentor in the supervision and teaching new staff or students in the development of competencies required.
• Develop and maintain own professional knowledge, clinical competency and skills utilizing reflective practice and maintaining a professional portfolio.
• Participate in and/or have the ability to lead, under the guidance, support and direction of senior staff, the development of programs or quality initiatives that seek to measure and contribute to patient outcomes e.g. clinical auditing, performance improvement activities, and data collection.
• Participate in clinical research and support Al Jalila research initiatives.

Communication

• Interact with patients, visitors and all stakeholders in a courteous, respectful and helpful manner.
• Interact with members of the healthcare team in a manner that demonstrates respect, effective communication skills and promotes teamwork.
• Document all relevant information correctly, appropriately and in a timely manner.
• Promote safe patient care and a safe environment by embracing a Culture of Safety and proactively identifying areas of risk and timely reporting of adverse safety events.

Collaboration

• Contribute to the achievement of clinical quality indicators, positive patient outcomes, and patient and family satisfaction through extraordinary service.
• Coordinate care across the continuum – understand and utilize case management resources to achieve patient care goals, discharge planning, decreasing the length of stay and waiting times.

Safety

• Actively support strategies for Safeguarding Children and ensure participation in the development and implementation of safeguarding strategies and procedures.
• Speak up when team members appear to exhibit unsafe behavior or performance.
• Continuously validate and verify information needed for decision-making or documentation.
• Demonstrate accurate, clear and timely verbal and written communication.
• Actively promote safety for children, families, visitors and co-workers.
• Stop in the face of uncertainty and take time to assess and resolve the situation.

QUALIFICATIONS, EXPERIENCE AND SKILLS

Education

• A BSc/MSc degree in Bioinformatics or Computational Biology from an accredited institute/college/university.

Experience

• Minimum three (3) to five (5) years Bioinformatics experience with Next generation sequencing data analysis.

Job Specific Skills and Abilities

• Hands-on experience with large-scale genomic data analysis (e.g. whole genome sequencing, exome-seq, target enrichment, amplicon sequencing, RNA-seq, etc.)
• Experience in long read sequencing technology (i.e. Oxford Nanopore) including bascalling, alignment and mutation detection softwires.
• Familiarity with Linux/UNIX-based operating systems and shell scripting.
• Experience in high performance computing, clusters and cloud computing.
• Proficiency in scripting languages (java, perl, python and R).
• Excellent understanding of short-read alignment, mapping, variant calling of diverse types of genomic variation, and annotation tools.
• Experience with pipeline or workflow automation and development frameworks preferred.
• Deep understanding of next generation sequencing methods, genome structure, platform-specific bias and errors, and data interpretation.
• Proficiency in various open source and commercial bioinformatics resources and software required.
• Excellent understanding of different sequencing technologies and molecular biology.
• Experience with management and analysis of complex data types.
• Familiarity with resources of genomic data sets and analysis tools, such as UCSC Genome Browser, gnomAD and NCBI databases.
• Ability to correctly select and perform statistical tests for most types of genomic data, and to properly interpret their results in the scenario of a specific study.
• Ability to leverage unique knowledge of bioinformatics, applied biostatistics, molecular biology, and measurement platforms for effective scientific discussion with biologists and clinicians.
• Excellent organization and communication skills with an emphasis on strong presentation skills.