Bioinformatics Specialist III

Mass General Brigham•Boston, MA
•$93,954 - $136,739•Hybrid

About The Position

The Bioinformatics Specialist III leads complex bioinformatics projects and oversees the design, validation, and operation of reproducible data analysis workflows supporting clinical genomics and translational research. The role develops computational methods, algorithms, and machine learning approaches for genomic, clinical, and imaging data, and builds and supports production-grade pipelines across high-performance computing and cloud environments. The specialist collaborates with clinicians, pathologists, laboratory staff, software engineers, and external partners to translate clinical and operational needs into technical solutions. The position also contributes to bioinformatics strategy and research planning, mentors junior team members, and provides technical expertise for bioinformatics tools, software, and data resources. The role is hybrid, with onsite work four times per month and remote work from a quiet, secure, HIPAA-compliant area.

Requirements

  • Bachelor's degree in Bioinformatics or a related field, or equivalent experience in lieu of a degree.
  • At least 5 years of related bioinformatics experience.
  • Strong programming ability in Python and/or R, plus shell scripting; Perl is a plus.
  • Hands-on experience analyzing next-generation sequencing data, such as germline or somatic variant calling, RNA-seq, or long-read data.
  • Experience with workflow languages and managers such as WDL, Nextflow, or Snakemake, and containerization tools such as Docker or Apptainer.
  • Proficiency with Git-based development, code review, and automated testing; familiarity with CI/CD practices.
  • Familiarity with high-performance computing and cloud computing environments.
  • Working knowledge of machine learning and statistical modeling, with familiarity with frameworks such as scikit-learn, PyTorch, or TensorFlow.
  • SQL proficiency using MySQL, PostgreSQL, and/or SQL Server.
  • Familiarity with SDLC principles and validation and documentation practices for clinical software.
  • Familiarity with experimental design principles and modern data analysis paradigms.
  • Strong interpersonal and communication skills, including the ability to work effectively with clinicians, scientists, engineers, and external contacts at all levels.
  • Effective problem-solving skills and the ability to work independently and lead projects.
  • Ability to work remote hours in a quiet, secure, HIPAA-compliant area.

Nice To Haves

  • Master's degree in Bioinformatics.
  • Experience building and supporting production NGS analysis workflows.
  • Experience in a clinical or CLIA/CAP-regulated environment.
  • Perl scripting.
  • Experience applying large language models or other AI tools in a research or clinical setting.
  • Knowledge of NoSQL and other DBMS, such as MongoDB or Apache CouchDB.
  • Familiarity with clinical data standards such as HL7 FHIR and common ontologies.

Responsibilities

  • Design, develop, and apply computational methods, bioinformatics algorithms, and machine learning models to genomic, clinical, and imaging data, including short-read and long-read sequencing data.
  • Build, maintain, and troubleshoot production-grade analysis pipelines and data architecture using workflow languages and managers, containerization, version control, and CI/CD practices.
  • Deploy and optimize workflows across high-performance computing and cloud environments, considering scalability, cost, and data security.
  • Apply machine learning and AI methods, including deep learning and large language models where appropriate, to variant interpretation, quality control, image analysis, and clinical data extraction, with validation and performance monitoring.
  • Develop and execute validation, documentation, and change control for clinical pipelines and tools in line with CLIA/CAP and institutional quality requirements.
  • Perform advanced statistical analyses and integrate data across multiple datasets and modalities.
  • Collaborate with pathologists, clinicians, laboratory staff, software engineers, and external partners and vendors on large-scale projects, translating clinical and operational needs into technical solutions.
  • Contribute to bioinformatics strategies, technology evaluations, and research plans.
  • Mentor and train junior analysts and team members, promoting good practices in code review, testing, and documentation.
  • Provide technical expertise and support for bioinformatics tools, software, and data resources.

Benefits

  • Comprehensive benefits.
  • Career advancement opportunities.
  • Differentials, premiums, and bonuses as applicable.
  • Recognition programs designed to celebrate contributions and support professional growth.
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