BIOINFORMATICS SPECIALIST JOB DESCRIPTION

A Bioinformatics Specialist turns raw sequencing data into decisions. In commercial genomics and biotechnology, that means working across NGS workflows and proteomics pipelines where the margin for error in amino acid sequencing or variant annotation is effectively zero. The role sits inside an interdisciplinary team that includes laboratory technicians, research scientists, and product managers, all depending on accurate, reproducible analytical outputs. PGx panel curation and multi-disease risk scoring are two of the more consequential responsibilities this position owns.

As the Bioinformatics Specialist, you will own the analysis and interpretation of high-throughput sequencing data to support diagnostic, pharmacogenomic, and protein characterization programs within a commercial life sciences environment. You will work alongside laboratory and computational colleagues, contributing analytical rigor that directly shapes the accuracy of genomic products delivered to clinical and research customers.

Career Impact: Deep hands-on experience with NGS workflows and PGx panel annotation positions a Bioinformatics Specialist as a credible technical authority in the commercial genomics market, where that combination remains genuinely scarce.

Business Impact: The variant calls, biomarker pipelines, and sequencing outputs this role produces feed directly into risk assessment models and diagnostic products that researchers and clinicians act on.

Growth Opportunity: Exposure to Polygenic Risk Scoring methodology and machine learning model validation opens a forward path toward senior computational roles in precision medicine or genomics product development.

• Conduct protein and nucleotide sequencing analysis from mass spectrometry and NGS raw data to determine accurate molecular outputs.
• Develop and deploy data processing workflows covering raw input, preprocessing, filtering, analytics, and storage.
• Mine and curate data from published literature and genomic databases to enhance predictive models and panel accuracy.
• Identify novel biomarkers and support new product pipelines through systematic curation of disease phenotypes and drug-gene associations.
• Review PGx literature to annotate genetic variants, assess drug response associations, and support clinical interpretation and reporting.
• Design experiments in collaboration with laboratory technicians to troubleshoot sequencing projects and resolve data anomalies.
• Manage multiple sequencing and analytical projects simultaneously, communicating progress and findings across interdisciplinary teams.

• Bachelor's degree in Bioinformatics, Biochemistry, Biology, Computational Biology, or a related field, or equivalent work experience.
• 3 or more years of hands-on bioinformatics experience in NGS or high-throughput sequencing workflows, preferably within a commercial genomics environment.
• Knowledge of molecular biomarkers, gene panels, and proteomics workflows relevant to disease diagnosis and pharmacogenomics.
• Demonstrated ability to apply statistical and data mining methods to biological datasets, including variant calling and effect annotation.
• Proficiency in scripting or programming using at least one language such as Python, R, Perl, or equivalent.
• Ability to work independently and within cross-functional teams, with strong attention to detail and analytical problem-solving skills.
• Strong written and verbal communication skills to convey technical findings to colleagues from non-computational disciplines.

• Graduate degree (Master's or PhD) in Bioinformatics, Genetics, Molecular Biology, or a closely related field with a focus on human disease genomics.
• Familiarity with biological databases and annotation resources used in variant curation and genomic research contexts.
• Experience applying machine learning methods including classification or risk scoring models to genomic or proteomic datasets.
• Prior contribution to PGx panel design, multi-disease risk score development, or commercial genomics product pipelines.

• Sequencing accuracy rate, reflecting the proportion of amino acid or variant calls confirmed by downstream validation.
• Pipeline turnaround time per project, measured against committed delivery timelines across concurrent sequencing workstreams.
• Biomarker curation output volume, tracking the number of validated variants added to panels per review cycle.
• PGx annotation completeness score, measuring the proportion of panel variants with full clinical interpretation and drug response documentation.
• Model performance delta, capturing improvement in predictive accuracy following each algorithm update or data curation cycle.
• Typical tools: Sequencing analysis platforms (commonly Novor, PEAKS); genomic databases (commonly NCBI, PharmGKB, COSMIC); scripting environments (commonly Python, R)

• Base Salary Range: $70,000 to $105,000 per year depending on degree level and experience.
• Bonus: Annual performance bonus of 5 to 10 percent of base salary.
• Equity: Stock options or RSUs offered at mid-level and above in commercial genomics companies.
• Health Benefits: Medical, dental, and vision coverage; employer contribution varies by company size.
• PTO: 15 to 20 days per year plus standard federal holidays.
• Common Perks: Conference and publication support, continuing education stipend, laboratory access for professional development.

Figures are estimates based on general US market benchmarks and may be outdated. Adjust based on location, company size, and seniority level.

Candidates for this position are evaluated without regard to race, color, religion, sex, national origin, age, disability, genetic information, veteran status, or any other characteristic protected under applicable federal, state, or local law. Candidates requiring a reasonable accommodation to participate in the application or interview process should notify the hiring team in advance. A background check, which may include verification of education and prior employment, is a condition of employment. All applicants must be authorized to work in the United States.

The Bioinformatics Specialist owns the analysis of tandem mass spectrometry data to determine primary amino acid sequences, working within Rapid Novor's Bioinformatics Team using the company's industrial leading software platform. Collaborating with laboratory technicians and interdisciplinary colleagues, the Specialist contributes to accurate protein sequencing outcomes across multiple concurrent projects.

Key Responsibilities

• Conduct next generation protein sequencing from mass spectrometry data using Rapid Novor's industrial leading software platform.
• Manage multiple sequencing projects simultaneously.
• Collaborate with team members in an interdisciplinary setting to meet project deadlines.
• Design experiments in collaboration with laboratory technicians to troubleshoot projects.
• Perform other duties as may be assigned.

Required Qualifications

• Hold an undergraduate or higher degree in Biochemistry, Biology, or a related field.
• Demonstrate high attention to detail and strong analytical skills to tackle problems efficiently.
• Apply knowledge of mass spectrometry and proteomics workflows as an asset.
• Work independently and within a team to meet objectives.
• Communicate acquired knowledge effectively with team members from other disciplines.

Embedded within a commercial genomics environment, the Bioinformatics Specialist develops and deploys data processing workflows and machine learning models spanning the full project lifecycle from build to deploy. Working closely with scientific and lab teams, the Specialist advances predictive risk assessment models and novel biomarker pipelines that directly support diagnostic and pharmacogenomics product development.

Core Functions

• Develop and deploy data processing workflows, define functional requirements, and create project execution plans including NGS raw data input, preprocessing, filtering, analytics, imputation, output, and storage.
• Own and manage the complete project lifecycle of machine learning models including build, validate, test, and deploy stages.
• Identify data sources and develop processes and tools to monitor and analyze model performance.
• Mine and curate data from published literature and journals to enhance existing products and assess impact on predictive risk assessment models.
• Identify novel biomarkers and develop new product pipelines through data curation of disease types and drugs using text mining, NLP, and automation.
• Develop and apply novel statistical, bioinformatics, and data mining algorithms including Polygenic Risk Scoring for population-specific multi-disease risk assessment.
• Review literature for PGx panels to identify genetic variants, disease phenotype, drug response associations, annotation, clinical interpretation, and reporting.
• Share insights with the lab team to regularly update panel design based on new research.

Qualifications and Experience

• Hold a PhD or Master's degree in Bioinformatics, Computational Biology, Genetics, Life Sciences, or Molecular Biology with deep understanding of human disease genomics.
• Bring 3 or more years of hands-on bioinformatics experience in NGS or other high-throughput sequencing workflows and data analysis software, preferably in a commercial genomics company.
• Demonstrate sound knowledge of molecular biomarkers and gene panels for diagnosis and prognosis of various diseases and PGx products.
• Apply knowledge of biological databases and tools such as NCBI, PubMed, MeSH, OMIM, PharmGKB, dbSNP, COSMIC, Gene Ontology, Genome Browsers, and Genome analysis tools.
• Possess strong data mining and machine learning skills with programming experience in Perl, Python, R, Java, or Matlab.
• Demonstrate good scientific writing, presentation, data visualization, and communication skills.

Reporting to the research leadership at RCH Solutions, the Bioinformatics Specialist maintains and develops NGS analytics systems and pipelines in support of life sciences and healthcare research teams in the greater Boston area. Partnering with scientists to recommend and implement software changes, the Specialist enables reliable data analysis and cloud-based pipeline delivery that advances research outcomes.

Primary Duties

• Maintain and leverage existing NGS analytics systems and pipelines based on research team needs analysis.
• Recommend and implement software changes including oral and written communication of planned work and timelines.
• Implement cloud services on an as-needed basis.
• Develop and execute new analytics systems and pipelines.
• Document data analyses and pipelines to support team alignment.

Skills and Qualifications

• Hold a PhD or bring 5 or more years of extensive industry experience in Bioinformatics, Quantitative Biology, or a related field.
• Demonstrate expertise in software development using Python and R.
• Apply skills in development, deployment, and utilization of data analysis pipelines.
• Show proficiency in cloud computing and best practices for source code control and versioning.
• Manage data and scientific software effectively within a research environment.

Sitting at the intersection of genome informatics and cloud infrastructure, the Bioinformatics Specialist develops data analysis pipelines and genomic database systems while building custom modules for Drupal, Tripal, and JBrowse. Operating across AWS environments and interdisciplinary teams, the Specialist supports new data type integration and genomic platform maintenance that expands research capabilities.

Duties

• Develop pipelines for data analysis and data loading into genomic databases.
• Build custom Drupal and Tripal modules and custom JBrowse plugins.
• Migrate data from local VM servers to AWS and manage AWS instances.
• Integrate new data types such as proteomic and microscopy data.
• Perform new data loading, updating, and Drupal site management.

Experience and Qualifications

• Bring experience with novel organism genomics and core bioinformatics algorithms and tools used in comparative genomics, genome assembly, gene annotation, variant calling, DNAseq, RNAseq, ChIPseq, and ATACseq.
• Demonstrate fluency in Linux, bash, and a scripting language such as Python, Perl, or PHP.
• Apply knowledge of Java or other languages for programming using APIs.
• Show ability to collaborate in the design and development of software, informatics infrastructure, and databases for genome data analysis.
• Possess experience with relational databases and SQL as well as understanding of AWS instance deployment and management.
• Demonstrate enthusiasm to learn web-based application development including Javascript, D3.js, HTML, CSS, Drupal, Tripal, and JBrowse.