Clinical Bioinformatician Senior

MAJOR RESPONSIBILITIES :

• Lead project management efforts, ensuring timely completion of goals and projects in alignment with strategic plans, and identify necessary resources for successful delivery.
• Conduct regular audits of bioinformatics processes to identify areas for improvement and ensure compliance with best practices and regulatory requirements.
• Implement and manage bioinformatics methodologies and pipelines for somatic and germline targeted genes sequencing, exhibiting good code and development practice.
• Analyze and interpret NGS data from various sequencing platforms (e.g., Illumina, Ion Torrent) for clinical applications such as hereditary disease diagnostics, cancer genomics, and solid tumor mutation detection.
• Hands-on design, develop, and optimize bioinformatics pipelines for tasks like variant calling, copy number variation (CNV) detection, structural variant analysis, and gene expression profiling.
• Work closely with clinical laboratory staff, pathologists, directors, and researchers to translate bioinformatics analyses into actionable clinical insights.

Communicate complex bioinformatics concepts and results to non-technical stakeholders in a clear and effective manner.

Assess data analysis workflows to identify opportunities for automation of analysis, reporting, and quality control (QC).

Implement improvements in collaboration with laboratory leadership.

Ensure all bioinformatics workflows and analyses comply with clinical laboratory regulations and standards (e.g., CLIA, CAP).

Lead the validation and verification of bioinformatic systems, including modifications, upgrades, and other changes; develop and maintain documentation for bioinformatics processes.

Develop and implement bioinformatics policies and practices that adhere to CLIA, CAP, CDC, OSHA, AABB, and FDA guidelines.

Oversee CAP bioinformatics surveys and ensure compliance with CAP inspections. Monitor regulatory changes and update policies accordingly.

Ensure the implementation of effective quality assurance and quality control programs, integrating with related committees and processes to maintain high standards.

MINIMUM EDUCATION AND EXPERIENCE REQUIRED

License / Registration / Certification required : n / a

EDUCATION REQUIRED :

• Ph.D. in Bioinformatics, Statistics, Computer Science, data science or a related field and 3+ years of bioinformatics experience, OR
• Master's degree with 5+ years of experience, OR
• Bachelor's degree with 8+ years of experience

EXPERIENCE REQUIRED :

• Experience with Linux-based or cloud computing environments
• Proficiency in Python, R for developing somatic and germline analysis pipelines, with experience managing the codebase using Git
• Proven experience in NGS data analysis, variant detection, and annotation

KNOLWEDGE, SKILLS AND ABILITIES REQUIRED :

• Familiar with the basic of genomics, genetics or molecular and cell biology.
• Proficiency in Python, R, Bash, or similar programming / scripting languages.
• Experience with high-performance computing (HPC) and cloud platforms is preferred.
• Ability to write custom code for constructing analysis pipelines and manipulating sequence data.
• Familiarity with cancer genomics, liquid biopsy, or hereditary disease testing preferred.
• Demonstrated organizational ability, attention to detail, and accuracy.
• Ability to speak effectively and present material to be understood by a diverse group of individuals.

PHYSICAL REQUIREMENTS AND WORKING CONDITIONS :

• Operates all equipment necessary to successfully perform all job responsibilities
• Must have fine motor skills and manual dexterity
• Frequently lifts to 10 lbs. Occasionally lifts to 50 lbs
• Must be able to sit, stand, walk, and bend much of the workday
• May be exposed to mechanical, electrical, chemical, radioactive and / or infectious agents
• Will be exposed to human blood, tissue, and body fluids
• Must wear appropriate Personal Protective Equipment (PPE) as needed

This job description indicates the general nature and level of work expected of the incumbent. It is not designed to cover or contain a comprehensive listing of activities, duties or responsibilities required of the incumbent.

Incumbent may be required to perform other related duties.