Bioinformatics Variant Jobs (NOW HIRING)

Pay Range: $155,000.00 - $175,000.00 per year.

Salary offers are based on a wide range of factors including relevant skills, training, experience, education, and, where applicable, certifications obtained. Market and organizational factors are also considered. Successful candidates may be eligible to receive annual performance bonus compensation.

• Day 1 Medical, supplemental health, dental & vision for FT employees who work 30+ hours
• Best-in-class well-being programs
• Annual, no-cost health assessment program Blueprint for Wellness®
• healthyMINDS mental health program
• Vacation and Health/Flex Time
• 6 Holidays plus 1 'MyDay' off
• FinFit financial coaching and services
• 401(k) pre-tax and/or Roth IRA with company match up to 5% after 12 months of service
• Employee stock purchase plan
• Life and disability insurance, plus buy-up option
• Flexible Spending Accounts
• Annual incentive plans
• Matching gifts program
• Education assistance through MyQuest for Education
• Career advancement opportunities
• and so much more!

At Quest, we are on a continuous journey of discovery and development. It’s this attitude that has made us an industry leader and the #1 Diagnostic Lab in the US. For those joining us, we offer exciting and fast‑moving career opportunities where you can affect change at a rate unheard of in many organizations of our size and scope. While we invest in and develop technology to drive our innovations, our ongoing success relies on our people.

Quest Diagnostics Specialty Genetics products provide specific answers that clinicians need to deliver the appropriate diagnostic and prognostic care to their patients. You will work for the world leader in the industry, with a career where you will have the opportunity to collaborate and affect change while expanding your leadership skills and technical knowledge. You can make a real impact in a market that is growing and developing.

This position is in our Bioinformatics Solutions Engineering group, part of the Research and Development organization, in Molecular Genomics & Oncology unit. The team supports genetic/genomic testing in a highly regulated CAP/CLIA laboratory environment primarily using short and long‑read sequencing as the basis of evidence. The right candidate will know how to balance innovation, standards, and quality with a practical understanding of when each is appropriate. The Bioinformatics Solutions Engineering group is a cross‑functional unit focusing on end‑to‑end design, develop, document, validation, and launching of new high quality diagnostic tests and services for the benefit our patients.

This professional will work in a Hybrid capacity requiring 3 days onsite at our Marlborough, MA facility.

• Lead technical design, implementation and delivery of projects aiming to launch new diagnostic tests and services. Act as technical owner for your project, being responsible for the end‑to‑end solution from technical side.
• Work with cross‑functional partners from business, operations, IT, R&D lab, geneticists, medical directors, and other bioinformatics stakeholders to create solutions that meet business and operational requirements.
• Lead solution architecture and interface design including system architecture for bioinformatics and detailed data flow mapping.
• Collaborate with stakeholders to ensure compliance of the solution with internal and external IT security and clinical policies and processes.
• Work with bioinformatics domain leaders to select appropriate technology platforms for each step in the diagnostic process.
• Oversee end‑to‑end testing and diagnostic test validation activities with the project team.
• Lead the technical documentation and plan and execute handover to operations to ensure effective launch and operation of the solution.
• Work with project management and report on progress, analyze risks and elevate issues to ensure accurate project management.

• BS with 7+ years of experience, MS with 4+ years, or PhD with 3+ years in an industrial or academic setting working with clinical and biological data or equivalent and underlying technologies including bioinformatic methods, database development, query/scripting/programming languages, cloud development, agile methodology, DevOps and other data analysis tools.
• At least 5 years of experience working in a regulated industrial life sciences environment.
• At least 4 years of professional software development or technical engineering experience.

• Thorough understanding of end‑to‑end diagnostic process including ordering, wet lab, dry lab, result interpretation and result and data delivery.
• Experience with solution design, system architecture, solution architecture, data flow modeling.
• Experience in leading technical design and implementation of complex projects.
• Experience with sequencing data analysis, bioinformatics, variant data analysis.
• Knowledge of bioinformatics tools and workflow managers for sequencing data analysis and quality control.
• Experience working with SQL and NoSQL databases.
• Experience with designing and working with application programming interfaces (e.g., JSON based RESTful APIs).
• Experience with designing and implementing solutions in the cloud. AWS experience is preferred.
• Experience of working in clinical diagnostics setting (regulations, controlled processes, diagnostic test validation, environment management).
• Solid understanding of human genetics and oncology in diagnostic setting.
• Solid understanding of web lab process for DNA sequencing and working with or developing LIMS systems.
• Infrastructure management: Terraform, AWS CDK.
• Architecture design: Microsoft Visio, DrawIO, similar for crafting architecture diagrams.
• Programming languages: Python, javascript/typescript, R, etc.
• Containerizing: Docker
• Web Frameworks: Python Flask, React Native, Bootstrap
• Reporting: R Markdown, Jupyter Notebook
• Visualization: Experience with any of ggplot2/tidyverse, Plotly, matplot lib, Tableau, d3.js
• Source Control: Git
• CI/CD: Gitlab CI/CD, Github CI/CD

• Bachelor’s Degree Required
• Master’s Degree or PhD Preferred

Equal Opportunity Employer: Race/Color/Sex/Sexual Orientation/Gender Identity/Religion/National Origin/Disability/Vets or any other legally protected status.