Human Genetics Sr. Analyst Bioinformatics (Dr. Hestand) (C)

POSITION TITLE: Sr. Analyst- Bioinformatics
SUPERVISOR'S TITLE: Varies
TITLES SUPERVISED: N/A
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.

Responsibilities
• Informatics operationAssists analysts and managers to build a robust informatics pipeline for analyzing sequencing data fromclinical 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 projectsDevelops plans and perform analysis. Generates reports for publications. Assists with manuscript materialsfor publications and reports about research projects for presentation at scientific meetings. Worksclosely with biostatistics department on the production of report deliverables.
• Project ManagementReviews, 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 ServiceImplements 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 DevelopmentDevelops new application functionality and maintains existing code. Analyzes, reviews, and rewritesprograms to increase operating efficiency or to adapt program to new requirements. Actively participatesin formal requirement, design and code reviews. Works closely with Biomedical Informatics department toleverage system, software and knowledge efficiencies.
• TeamworkTrains and supports staff, residents, fellows, and technologists. Manages computer hardware and softwarefor laboratory staff. Troubleshoots informatics problems for staff and clients.
Skills & Competencies
• Interpersonal CommunicationExcellent verbal, written and interpersonal communication skills with ability to communicate withpersonnel at all levels of the organization.
• DiversityAbility to relate to diverse age and demographic backgrounds.
• Problem Solving/AnalyticsStrong analytical and problem solving skills.
• DiplomacyDemonstrate diplomacy, tact, and a professional demeanor.
• TechnologyFamiliar 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.Demonstrated ability to use at least one scripting programming language, such as Python or Perl and/or R,required.
• Molecular Biology and GeneticsFamiliar with Molecular Biology and Genetics, required.

QualificationsRequired:• Bachelor's degree in Biology, Informatics or Computer Science AND 5 years of bioinformatics or relatedexperience OR
• Master's degree in Bioinformatics or Computer Science AND 2 years of bioinformatics or related experience

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 and Genetics