Research Specialist IV

JOB SUMMARY 

The Research Specialist IV - Bioinformatics performs routine and complex scientific work, evaluating, selecting and applying procedures and techniques to assignments with clear, specific objectives. Assignments require investigation of a number of variables and complex features.  Working with limited supervision, the role is required to exercise judgment in making technical decisions related to delegated tasks. As part of the bioinformatics team at GDSC the candidate will be responsible to build and develop reproducible pipelines for processing genomics data to help researchers and clinicians understand their data. The candidate will interact with scientists from different disciplines (biologists, geneticists, biotechnologists and computer scientists) to deliver genomics data science solutions and clinical applications. The candidate will deal with data produced by cutting-edge sequencing technologies. The candidate is expected to support several projects and mentor junior researchers.

KEY ROLE ACCOUNTABILITIES

• Contributes to the delivery of departmental goals, through personal effort in own work area.
• Under the general supervision of more senior scientific staff performs research tasks of a moderate scope.
• Performs scientific research at the highest standards.
• Conducts experiments, analyzes and processes data.
• Collects and summarizes scientific data/ information for experiments and archiving.
• Keeps accurate records of experiments, checks data and informs discrepancies.
• Assists with evaluating and testing new processes.
• Complies with safety regulations/ standard protocols.
• Collaborates with other Sidra members to apply the results of research and/or develop new techniques or practices.
• Prepares research results with investigators/ staff scientists for journals and report publications.
• Presents ongoing work and findings to colleagues both local and in academic conferences.
• Develops and applies novel methods for genetic variants calling, filtering, annotation and interpretation of NGS data for WGS, WES and gene panels.
• Analyzes rare genetic variants for familial diseases to identify pathogenic variants of likely therapeutic intervention.
• Uses machine learning algorithms to integrate multi-omics data.
• Test new approaches/tools and build the best-practice workflows for the performance of the respective duties.
• Makes use of publicly available biological data including TCGA, GEO, SRA etc.
• Writes progress reports and research grant proposals for funding agencies.
• Adheres to Sidra’s standards as they appear in the Code of Conduct and Conflict of Interest policies.
• Adheres to and promotes Sidra’s Values

In view of the evolving needs and opportunities within Sidra, this position may be required to perform other duties as assigned and reporting relationships may vary.

QUALIFICATIONS, EXPERIENCE AND SKILLS – SELECTION CRITERIA

Education 

ESSENTIAL:   Bachelor’s Degree in Bioinformatics or computational biology or relevant field.

PREFERRED: Master’s Degree in Bioinformatics or computational biology or relevant field

Experience

ESSENTIAL: 7+ years of experience in a research environment or industry.

PREFERRED:  Experience in processing and analyzing long read sequences (PacBio or ONT)

                         Experience in single cell and epigenetics field.

                         Experience in cloud computing: Azure, AWS or Google Cloud.

Job Specific Skills and Abilities

ESSENTIAL: Knowledge of scientific research methods and evaluation of research results

• Demonstrated ability to develop and maintain own knowledge and skills at the forefront of field.
• Effective problem solving and analytical skills and ability to be detail oriented.
• Solid knowledge of next generation sequencing data analysis including QC, mapping, variants calling, annotation, trio analysis, genotyping, and differential expression.
• Very good knowledge in workflow managers like next flow, snake make, wdl or CWL
• Proficiency in utilizing HPC environments including job schedulers like LSF or SLURM
• Very good knowledge in container technologies like conda, docker or singularity
• Applying machine learning algorithms to analyze complex and large-scale genomics/transcriptomics datasets. 
• Excellent programming skills in Python and R, and bash scripting
• Ability to guide and mentor junior researchers. 
• Demonstrated ability to write and edit scientific information for a general audience.
• Ability to assist in the management of a project, overcome obstacles, and meet deliverable deadlines.
• Proficiency with Microsoft Office suite.
• Fluency in written and spoken English.