Summary
The company is a confidential healthcare organization developing genetic and genomic testing solutions in a regulated clinical laboratory environment. The Bioinformatics Pipeline Engineer will design, develop, validate, and implement software, databases, processes, and interfaces for next-generation sequencing data analysis, diagnostic testing, data quality review, and clinical reporting. The role also provides subject-matter expertise, production support, technical reporting, and cross-functional project collaboration.
Responsibilities
- Develop, validate, and implement new software applications, databases, processes, and interfaces relating to next-generation sequencing (NGS) data analysis, advanced diagnostic testing development and validation, data quality review, and clinical reporting
- Serve as SME on specific systems/workflows supporting advanced development and high-tier production support
- Participate in resolution of support requests. Regularly report progress and prepare data analyses for internal review
- Prepare reports and other communications of technical activities related to business objectives such as product/process development and improvement
- Activities may be focused individual projects or, more usually, assignments as a member of a project team, often working closely with other Software Developers, R&D bench scientists, Genetic Counselors, Operations Scientists, and other technical business partners
Skills
- 3+ years of experience with a Bachelor's degree or 1+ year with a Master's degree and experience 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
- Bioinformatics tools such as Dragen, bwa, VEP, FastQC, MultiQC, samtools, bedtools
- Experience with sequencing data analysis, bioinformatics, variant data analysis
- Pipeline workflow management languages: Nextflow (preferred), Cromwell, CWL, etc
- Cloud Computing: AWS
- Infrastructure management: Terraform, AWS CDK
- Programming Languages: Advanced level with interpreted/scripting languages such as Python, JavaScript/typescript, R, etc
- Containerizing: Docker
- Experience with designing and working with application programming interfaces (e.g. JSON based RESTful APIs)
- Web Frameworks: Python Flask, React Native, Bootstrap
- Reporting: Familiarity with R Markdown, Jupyter Notebook
- Visualization: Experience with any of ggplot2/tidyverse, Plotly, matplot lib, Tableau, d3.js
- Source Control: Git
- CI/CD: GitHub CI/CD
- Familiarity with AI developer tools like GitHub Copilot
- Understanding of environment management
- Experience of working in clinical diagnostics setting (regulations, controlled processes, environment management) is a plus
Qualifications
Must Haves
- 3+ years of experience with a Bachelor's degree or 1+ year with a Master's degree and experience 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
Nice to Haves
- Bioinformatics tools such as Dragen, bwa, VEP, FastQC, MultiQC, samtools, bedtools
- Experience with sequencing data analysis, bioinformatics, variant data analysis
- Pipeline workflow management languages: Nextflow (preferred), Cromwell, CWL, etc
- Cloud Computing: AWS
- Infrastructure management: Terraform, AWS CDK
- Programming Languages: Advanced level with interpreted/scripting languages such as Python, JavaScript/typescript, R, etc
- Containerizing: Docker
- Experience with designing and working with application programming interfaces (e.g. JSON based RESTful APIs)
- Web Frameworks: Python Flask, React Native, Bootstrap
- Reporting: Familiarity with R Markdown, Jupyter Notebook
- Visualization: Experience with any of ggplot2/tidyverse, Plotly, matplot lib, Tableau, d3.js
- Source Control: Git
- CI/CD: GitHub CI/CD
- Familiarity with AI developer tools like GitHub Copilot
- Understanding of environment management
- Experience of working in clinical diagnostics setting (regulations, controlled processes, environment management) is a plus
Benefits
- Hybrid work model
- This person can work 100% remote and must be located in the US.