Primary accountability is to leverage the organization’s data assets exome sequencing data (>180,000 individuals) from MyCode Community Health Initiative to improve quality, efficiency and generate knowledge specifically in the field of bioinformatics within health research. Performs and supervises complex data extraction, transformation, visualization, and summarization to support Research and operations activities.. Uses data reporting/management tools such as SQL, python, NGS tools (GATK, BWA, VEP, etc.), genomic databases (ClinVar, NCBI, gnomAD, etc.) and contributes to national publications. Uses multiple operating systems (Windows, Linux) and compute environments (local, cloud) and is responsible for assisting in development and maintenance of bioinformatics capabilities.
- Strategically considers all potential uses for available data, and how to transform disparate data into a useful data.
- Provide informatics support in variant screening and interpretation, including support of translational research projects.
- Assist in mining/annotation of genomic and clinical data. A strong understanding of the principles of genetics preferred.
- Uses multiple programming languages to develop and maintain bioinformatic pipelines for genomic applications.
- Conducts independent quantitative operational, clinical, and financial analysis with clearly summarized findings and recommendations for technical and clinical and non-technical and clinical audiences.
- Performs assessments to ensure and understand accuracy, quality, integrity and validity of data and analysis in all work.
- When appropriate, translates project specific analysis into ongoing, automated reporting tools including specification preparation, design, testing, validation, analysis, and merging data from various source systems.
- Participates in the development, implementation, and enforcement of data management standards and procedures.
- Proactively identifies potential outcome analysis, goals of intervention, and basic evaluation structure in the planning phases of research projects.
- Provides guidance, feedback, and input in the development of protocols and research proposals.
- Performs statistical analysis (SAS or R programming preferred) to evaluate the success of project implementation.
- Works closely with all levels of staff, customers and improvement teams to determine analytic needs and requirements; independently develops quantitative approaches to identify opportunities for performance improvement.
- Proactively educates the requester of any complexities associated with the data requests.
Work is typically performed in an office environment. Accountable for satisfying all job specific obligations and complying with all organization policies and procedures. The specific statements in this profile are not intended to be all-inclusive. They represent typical elements considered necessary to successfully perform the job.
Skills Required: Critical Thinking, Shell Scripting, Linux, SQL, Python, NGS tools, Genomics, Healthcare Industry, Independent Work, Interpersonal Skills, Research Analysis
Master’s Degree-Technology Related Degree (Required)
Minimum of 3 years-Healthcare (Required)
Certification(s) and License(s)
OUR PURPOSE & VALUES: Everything we do is about caring for our patients, our members, our students, our Geisinger family and our communities. KINDNESS: We strive to treat everyone as we would hope to be treated ourselves. EXCELLENCE: We treasure colleagues who humbly strive for excellence. LEARNING: We share our knowledge with the best and brightest to better prepare the caregivers for tomorrow. INNOVATION: We constantly seek new and better ways to care for our patients, our members, our community, and the nation. SAFETY: We provide a safe environment for our patients and members and the Geisinger family We offer healthcare benefits for full time and part time positions from day one, including vision, dental and domestic partners.* Perhaps just as important, from senior management on down, we encourage an atmosphere of collaboration, cooperation and collegiality. We are an Affirmative Action, Equal Opportunity Employer Women and Minorities are Encouraged to Apply. All qualified applicants will receive consideration for employment and will not be discriminated against on the basis of disability or their protected veteran status.
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