The Bioinformatics Analyst will take on responsibilities for building, validating and analyzing the whole genome sequencing data production systems of the Molecular Diagnostics Laboratory. This role will focus on developing and supporting the strategic goal of full scale deployment of whole genome analysis systems and multi-dimensional genomics. This position will also include opportunities to analyze large-scale phenotypic and genotypic data to support the analysis and presentation of results to Directors and hospital physicians. Primary responsibilities will be to provide programming expertise to support the spectrum of Molecular Diagnostic Laboratory projects, including the development and application of bioinformatics algorithms to diagnose patients with rare genetic diseases. The position is responsible for the development, installation and configuration of analytical software packages; performs programming and scripting to develop software; and assists with data management and transformations. Familiarity with python programming and statistics are highly desirable. Candidates with computer science backgrounds are also encouraged to apply. Excellent interpersonal and communication skills are essential, as are the abilities to work both independently and collaboratively and to meet deadlines.
Specific Requirements and Preferences
Bachelors degree in computer science and/or bioinformatics. MS or PhD in computer science or bioinformatics preferred.
Minimum Work Experience
Specific Requirements and Preferences
0-2 years relevant experience if MS or PhD.
Programming experience in Python, R and other computer science languages appropriate for analysis of genome scale datasets.
Demonstrated delivery of code following best practices for test driven development and production deployment of data analysis systems.
Familiarity or interest in the validation and data analysis of whole genome scale genomic technologies.
Familiarity with cluster functioning and/or Cloud-Based data management.
Proficiency in programming using Perl/python/java/C++/R, statistical programming using R or related tools, web-development, and database query through SQL and ability to prototype software solutions for data analysis.
Team oriented with excellent written and verbal communication skills, and demonstrated ability to self-education in current bioinformatics techniques and resources.
Responsible Conduct of Research
1. Ensure compliance with standards for the responsible conduct of research
2. Plans, conduct, and manages research programs within the federal and institutional regulations and policies.Responsible for appropriate use of research funds and resources
1. Interprets complex biological information and meets with scientists to provide bioinformatics consultation in the analysis of experimental data
2. Communicates with research scientists to understand and obtain data analysis specifications
3. Design data analysis projects plans and timelines and maintains the appropriate documentation
4. Meets timelines and quality expectations on data analysis related deliverables for multiple projects
5. Works independently and as a team member to analyze data
6. Meets with investigators at all stages of a project to ensure study design, data analysis, and data provenance are all being addressed and are processing
1. Follows established procedures or specific scientific protocols and maintains dada generated by genome sequencing projects through assembly, annotation, curating, and quality assurance
2. Performs preliminary analysis of genomic data and format for use by other analysts or scientists.
3. Integrates and analyzes data from genome sequencing projects. Functional genomics analysis, and other research projects
4. Performs data mining and synthesis activities using various internal resources, public database and publications
5. Ensure data integrity and security
6. Ensure that data is backed up in long term storage
1. Organizes genomics data and developing new data types into databases, displays, or graphic presentations for publications and web presentations.
2. Assists in designing and developing new database to store gene expression, fusion gene and other genomics data files.
3. Maintains and improves existing databases
4. Configures and maintains systems that track progress of clinical samples through wet-bench and computational protocols working with wet ab and research teams
Computational Infrastructure Administration
1. Writes and executes code to extract relevant subsets of expressions data and analyzes these datasets in context of clinical diseases specific information
2. Maintains the computational infrastructure and controls the flow of samples and information for large-scale studies
3. Creates custom toolkits and analytic methods to meet the needs of investigators
4. Recognizes and reports problems with data management process and addresses problems as needed
Organizational Accountabilities (Staff)
Organizational Commitment/Identification 1. Anticipate and responds to customer needs; follows up until needs are met
Teamwork/Communication 1. Demonstrate collaborative and respectful behavior
2. Partner with all team members to achieve goals
3. Receptive to others’ ideas and opinions
Performance Improvement/Problem-solving 1. Contribute to a positive work environment
2. Demonstrate flexibility and willingness to change
3. Identify opportunities to improve clinical and administrative processes
4. Make appropriate decisions, using sound judgment
Cost Management/Financial Responsibility 1. Use resources efficiently
2. Search for less costly ways of doing things
Safety 1. Speak up when team members appear to exhibit unsafe behavior or performance
2. Continuously validate and verify information needed for decision making or documentation
3. Stop in the face of uncertainty and takes time to resolve the situation
4. Demonstrate accurate, clear and timely verbal and written communication
5. Actively promote safety for patients, families, visitors and co-workers
6. Attend carefully to important details - practicing Stop, Think, Act and Review in order to self-check behavior and performance