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Mass General Brigham

Early-stage life science venture investor

Bioinformatics Specialist 3

Quantitative Biology & BiostatisticsPosted on Nov 11
Full-timeBoston, MA, USA

About the Job

Requirements

  • A bachelor's degree in Bioinformatics or a related field is required; equivalent experience may be accepted in lieu of a degree.
  • At least 5 years of related bioinformatics experience is required.
  • 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 sequencing, or long-read data.
  • Experience with workflow languages and managers such as WDL, Nextflow, or Snakemake, and containerization such as Docker or Apptainer.
  • Proficiency with Git-based development, code review, and automated testing; familiarity with continuous integration and continuous delivery practices.
  • Familiarity with high-performance computing and cloud computing environments.
  • Working knowledge of machine learning and statistical modeling, with familiarity with scikit-learn, PyTorch, or TensorFlow.
  • Proficiency in SQL using MySQL, PostgreSQL, and/or SQL Server.
  • Familiarity with software development lifecycle principles and validation and documentation practices for clinical software.
  • Familiarity with principles of experimental design and modern data analysis paradigms.
  • Ability to work effectively with clinicians, scientists, engineers, and external contacts at all levels.
  • Ability to work independently and lead projects.

Responsibilities

  • Lead complex bioinformatics projects and oversee the design, validation, and operation of reproducible data-analysis workflows supporting clinical genomics and translational research.
  • Design, develop, and apply computational methods, bioinformatics algorithms, and machine-learning models to analyze and interpret 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 continuous integration and delivery practices to ensure reproducibility and traceability.
  • Deploy and optimize workflows across high-performance computing and cloud environments, with attention to scalability, cost, and data security.
  • Apply machine-learning and artificial-intelligence methods, including deep learning and large language models where appropriate, to variant interpretation, quality control, image analysis, and clinical data extraction, with appropriate validation and performance monitoring.
  • Develop and execute validation, documentation, and change control for pipelines and tools used in clinical settings in line with CLIA/CAP and institutional quality requirements.
  • Perform advanced statistical analyses and integrate data across multiple datasets and data 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, and promote good practices in code review, testing, and documentation.
  • Provide technical expertise and support for bioinformatics tools, software, and data resources.

Desired Qualifications

  • A master's degree in Bioinformatics is preferred.
  • Experience building and supporting production next-generation sequencing analysis workflows.
  • Experience in a clinical or CLIA/CAP-regulated environment.
  • Experience applying large language models or other artificial-intelligence tools in a research or clinical setting.
  • Knowledge of NoSQL and other database management systems, such as MongoDB or Apache CouchDB.
  • Familiarity with clinical data standards such as HL7 FHIR and common ontologies.

About the Company

Mass General Brigham

Early-stage life science venture investor

Mass General Brigham Ventures funds early-stage life science ideas arising from Mass General Brigham’s research network. It provides first access to deal flow and proprietary rights, backing the formation and growth of new companies and technologies. It uses capital and support to help translate bold innovations into drugs and medical technologies that improve patient outcomes worldwide.

Company size
1-10
Company stage
Not listed
Total funding
$1.9B
Headquarters
Cambridge, MA
Founded
2008

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