Human Genetics Analyst-Bioinformatics (Dr. Hestand)


Purpose of position: Use existing software and/or databases to gather, store, manipulate, and analyzebiological sequence and structural data. Assist with design, development, implementation and enhancementsof computational and statistical methods to analyze biological big data to answer specific biologicalquestions. Interface with user representatives, management and development teams on the production ofreport deliverables. Help identify and troubleshoot issues in existing analysis pipelines. Perform dataretrieval, curation, analysis and manuscript preparation for research projects.
Informatics operation:Assists analysts and managers to build a robust informatics pipeline for analyzing sequencing data fromPage 1 of 2clinical samples during assay development. Establishes physical and computational infrastructure. Appliesexisting software to support sequence alignment, variant calling, inter-sample comparison, algorithmevaluation, data management, data retrieval, and web access. Document standard operating procedures basedon best practice. Assists in developing tools and applying software to support sequence alignment, variantcalling, inter-sample comparison, algorithm evaluation, data management, data retrieval. Helps developscalable database for variant curation and analysis. Incorporates institutional resources and 3rd partysoftware into specialized analysis workflows for the team and clients. Updates and maintain mutationdatabase for molecular genetics laboratory. Supports DNA/RNA sequence database searches and thecomputational analysis of resulting data. Maintains the computational infrastructure and controls the flowof samples and information for studies. Provides web-based bioinformatics and access to public andproprietary relational databases. Develops and applies computational tools. Works in collaboration withdrug discovery project teams.
Perform data analysis for research projects:Develops plans and perform analysis. Generates reports for publications. Assists with manuscriptmaterials for publications and reports about research projects for presentation at scientific meetings.Works closely with biostatistics department on the production of report deliverables.• Project Management:Reviews, analyzes, and evaluates systems and user needs. Documents requirements, defines scope andobjectives, and formulates systems to parallel overall strategies. Participates in various aspects of thesoftware development life cycle, including identification of key stakeholders, design requirementsgathering, system analysis and design, code generation, testing and implementation. Writes detaileddescription 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 andfact-finding combined with an understanding of applicable systems and industry requirements. Assists withproject implementation plans. Appropriately and effectively communicates project status to all necessaryparties. Utilizes project and time management skills to complete projects within specified timeframes.
Client Service:Implements end-users' needs in database searching and integration, which includes interpretation ofsimilarity of sequence searches, multiple sequence alignments and gene expression patterns and the qualitycontrol 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 technologyto the current environment.
Application Development:Develops new application functionality and maintains existing code. Analyzes, reviews, and rewritesprograms to increase operating efficiency or to adapt program to new requirements.Actively participates in formal requirement, design and code reviews. Works closely with BiomedicalInformatics department to leverage system, software and knowledge efficiencies.
• Teamwork:Trains and supports staff, residents, fellows, and technologists. Manages computer hardware and softwarefor laboratory staff. Troubleshoots informatics problems for staff and clients
Skills & Competencies
• Interpersonal Communication Excellent verbal, written and interpersonal communication skills with ability to communicate with personnel at all levels of the organization.
• Diversity Ability to relate to diverse age and demographic backgrounds.
• Problem Solving/Analytics Strong analytical and problem solving skills.
• Diplomacy Demonstrate diplomacy, tact, and a professional demeanor.
• Technology 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.

Qualifications Required: • Bachelor's degree in Biology, Informatics or Computer Sciences AND 1 year related experience OR
• Master's degree in bioinformatics or Computer Sciences

Preferred: • Ability to use at least one scripting programming language, such as Python or Perl &/or R
• Experience with Next Generation Sequence Data analysis, Molecular Biology & Genetics.