Job Description: DEPARTMENT: Human Genetics
SUPERVISOR'S TITLE: Associate Professor
TITLES SUPERVISED: N/A
TOTAL NUMBER OF FTE's DIRECTLY OR INDIRECTLY SUPERVISED: 0
PURPOSE OF POSITION: Responsible for analysis, design, development, implementation and enhancements of various applications, including operation and management of the application. Serve as the primary interface between user representatives, management and development teams. Use software and/or databases to gather, store, manipulate, and analyze research data. Design and implement bioinformatics tools and processes. Identify and resolve technical issues and propose upgrades to current software. Participate in sequence and structural analysis, data mining, or statistical modeling.
Responsibilities
- Genetics informatics operation
Works with molecular directors to build a robust informatics pipeline for analyzing sequencing data from clinical samples during assay development. Establishes physical and computational infrastructure. Manages informatics pipeline during operation. Applies existing software to support sequence alignment, variant calling, inter-sample comparison, algorithm evaluation, data management, data retrieval, and web access. Develops and document standard operating procedures based on best practice. Develops tools and apply software to support sequence alignment, variant calling, inter-sample comparison, algorithm evaluation, data management, data retrieval. Develops scalable database for variant curation and analysis. Incorporates institutional resources and 3rd party software into specialized analysis workflows for the team and clients. Updates and maintain mutation database for molecular genetics laboratory. Manages DNA/RNA sequence database searches and the computational analysis of resulting data Maintains the computational infrastructure and controls the flow of samples and information for studies. Provides web-based bioinformatics and access to public and proprietary relational databases. Develops and applies computational tools. Works in collaboration with drug discovery project teams.
- Perform data analysis for research projects
Develops plans and perform analysis Generates reports for publications. Prepares manuscript materials for publications and reports about research projects for presentation at scientific meetings. Work closely with biostatistics department on the production of report deliverables.
Reviews, analyzes, and evaluates systems and user needs. Documents requirements, defines scope and objectives, and formulates systems to parallel overall strategies. Participates in various aspects of the software development life cycle, including identification of key stakeholders, design requirements gathering, system analysis and design, code generation, testing and implementation. Writes detailed description of user needs, program functions, and steps required to develop or modify computer programs. Under general supervision, formulates and defines systems scope and objectives through research and fact-finding combined with an understanding of applicable systems and industry requirements. Develops, documents and presents project implementation plans. Appropriately and effectively communicates project status to all necessary parties. Utilizes project and time management skills to complete projects within specified timeframes.
Implements end-users' needs in database searching and integration, which includes interpretation of similarity of sequence searches, multiple sequence alignments and gene expression patterns and the quality control of sequence data. Serves as the primary interface with clinicians/researchers to analyze workflow, gather requirements, problem-solve and discuss possible solutions. Confers with representatives of departments concerned with projects to resolve questions of program intent, data input, output requirements, and inclusion of internal checks and controls. Proposes a viable design approach by analyzing the possible courses of action and associated impacts. Considers the implications of the application of technology to the current environment.
Develops new application functionality and maintains existing code. Analyzes, reviews, and rewrites programs to increase operating efficiency or to adapt program to new requirements.
Actively participates in formal requirement, design and code reviews. Develops functional and technical design documents. Works closely with Biomedical Informatics department to leverage system, software and knowledge efficiencies.
Guides and advises less-experienced staff. Trains and supports staff, residents, fellows, and technologists. Manages computer hardware and software for laboratory staff. Troubleshoots informatics problems for staff and clients.
Skills & Competencies
Understanding and showing respect and appreciation for the uniqueness of all individuals; leveraging differences in others' perspectives and ideas; appreciating cultural differences and adjusting one's approach to successfully integrate with others who are different from oneself
Demonstrates an independent work initiative, sound judgment, diplomacy, tact and professional demeanor
Analytical ability sufficient to evaluate data, make judgments and recommendations
Ability to independently work through details of a problem to reach a positive solution
Excellent verbal, written and interpersonal communication skills.
Familiar with relational database concepts, and client-server concepts. Capable of working on Linux, Unix and Windows environments. Experience with XML and HTML
Required
- Bachelor of Health Science
- Bachelor Info Technology
- Equivalent
- 3 years related experience
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