Assists analysts and managers to build a robust informatics pipeline for analyzing sequencing data from clinical samples during assay development. Establishes physical and computational infrastructure. Applies existing software to support sequence alignment, variant calling, inter-sample comparison, algorithm evaluation, data management, data retrieval, and web access. Document standard operating procedures based on best practice. Assists in developing tools and applying software to support sequence alignment, variant calling, inter-sample comparison, algorithm evaluation, data management, data retrieval. Helps develop 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. Supports 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. Assists with manuscript materials for publications and reports about research projects for presentation at scientific meetings. Works 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. Assists with 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. Interfaces with clinicians/researchers to analyze workflow, gather requirements, problem-solve and discuss possible solutions. 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. Works closely with Biomedical Informatics department to leverage system, software and knowledge efficiencies.
Trains and supports staff, residents, fellows, and technologists. Manages computer hardware and software for laboratory staff. Troubleshoots informatics problems for staff and clients
Excellent verbal, written and interpersonal communication skills with ability to communicate with personnel at all levels of the organization.
Ability to relate to diverse age and demographic backgrounds.
Strong analytical and problem solving skills.
Demonstrate diplomacy, tact, and a professional demeanor.
Familiar with relational databases, such as MySQL and/or Oracle and client-server concepts. Comfortable working on Linux, Unix and Windows environments. Knowledge of computing cluster usage.