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Director Variant Analyst Jobs in Boston, MA (NOW HIRING)

Novartis

Human Genetics Laboratory Leader

Cambridge, MA · On-site

$152K - $283K/yr

... variant genetics, functional biology, and advanced analytical approaches to inform target ... Senior Principal Scientist or Associate Director Position Location: Cambridge, MA, onsite #LI ...

Hasbro

Paralegal

Boston, MA

... tracking director and officer information, and supporting annual meeting preparations. * Draft ... Review conflict-of-interest disclosures, assess variant responses, and resolve potential conflicts ...

Massgeneralbrigham

Biostatistician Principal

Boston, MA · On-site

$56.59 - $82.31/hr

Direct experience with methylation-domain discovery. * Peer-reviewed publication record ... Provide statistical genetics support, including rare-variant burden analysis across germline ...

PacBio

Senior Genomic Sales Specialist

Boston, MA · On-site

Develop relationships with laboratory directors, molecular pathologists, geneticists ... Knowledge of secondary and tertiary genomic analysis, variant interpretation, and clinical ...

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All JobsVariant Analyst JobsDirector Variant Analyst JobsDirector Variant Analyst Jobs in Boston, MA

Director Variant Analyst information

What is a director variant analyst?

A Director Variant Analyst is a senior professional responsible for overseeing the analysis and interpretation of genetic variants within an organization, typically in a clinical or research genetics setting. They lead teams that evaluate genetic data to determine the clinical significance of DNA sequence variations, which is crucial for diagnosing genetic disorders or informing personalized medicine. The director collaborates with scientists, clinicians, and laboratory staff to ensure the accuracy and quality of genetic variant analysis and reporting. They may also contribute to the development of protocols, implementation of new technologies, and compliance with industry regulations. This role requires deep expertise in genetics, bioinformatics, and leadership.

What are the key skills and qualifications needed to thrive as a director variant analyst, and why are they important?

To thrive as a Director Variant Analyst, you need advanced expertise in genomics, variant interpretation, and bioinformatics, often supported by a PhD or equivalent experience in genetics or molecular biology. Familiarity with next-generation sequencing (NGS) platforms, variant annotation tools, and clinical databases, along with relevant certifications such as board certification in clinical molecular genetics, is highly valued. Strong leadership, decision-making, and communication skills are critical for managing teams and collaborating across departments. These competencies ensure accurate and efficient analysis of genetic data, drive innovation, and support high-quality clinical or research outcomes.

What are the main challenges a director variant analyst faces when leading a genomics team?

A Director Variant Analyst often navigates challenges such as managing diverse teams of bioinformaticians and geneticists, ensuring data accuracy amidst rapidly evolving technologies, and balancing project deadlines with regulatory compliance. They must facilitate effective communication between research, clinical, and IT departments, especially when interpreting and reporting complex genomic data. Additionally, staying current with advancements in variant interpretation and integrating new tools while maintaining operational efficiency is a key aspect of the role.

What is the difference between Director Variant Analyst vs Variant Analyst?

AspectDirector Variant AnalystVariant Analyst
CredentialsBachelor's degree, often with experience in data analysis or geneticsBachelor's or higher in biology, genetics, or related field
Work EnvironmentLeadership role in labs or healthcare companies, overseeing projectsHands-on data analysis in labs or research settings
Industry UsageUsed in biotech, healthcare, and research organizationsCommon in genetics labs, research institutions, and healthcare

The main difference is that the Director Variant Analyst typically holds a leadership position with strategic responsibilities, while the Variant Analyst focuses on data analysis and research tasks. Both roles require relevant credentials and are integral to genetics and healthcare industries, but the Director role involves overseeing teams and projects.

What are the most commonly searched types of Variant Analyst jobs in Boston, MA?

The most popular types of Variant Analyst jobs in Boston, MA are:

What are popular job titles related to Director Variant Analyst jobs in Boston, MA?

For Director Variant Analyst jobs in Boston, MA, the most frequently searched job titles are:

What job categories do people searching Director Variant Analyst jobs in Boston, MA look for?

The top searched job categories for Director Variant Analyst jobs in Boston, MA are:

Director Variant Analyst jobs near you

Associate Director, Bioinformatics

Rhythm Pharmaceuticals

Boston, MA • On-site

Full-time

Re-posted 9 days ago

Job description

Company Overview
Rhythm is a global, commercial-stage biopharmaceutical company committed to transforming the lives of patients living with rare neuroendocrine diseases. We develop medicines for previously untreatable or undertreated diseases. We recognize the courage it takes for patients and their caregivers to begin their journey of advocacy to find the answers they need. Their courage inspires us to challenge convention, ask bold questions and seek answers for them. Every day, we strive for excellence through our willingness to adapt, learn, and our tenacity to overcome barriers, together.
Opportunity Overview
We are seeking a highly motivated Associate Director of Data Science within Rhythm's Research group and the Data Sciences Team in support of our clinical, regulatory, and scientific objectives in the rare neuroendocrine/obesity/metabolic disease. The successful candidate will have a strong background in biostatistics, genetics, and data analytics, and will be responsible for implementing advanced AI data models, predictive tools, and integrative analyses across the obesity and metabolic disease therapeutic areas. A core focus of this position will be the development and implementation of algorithmic phenotyping approaches using electronic medical records (EMR) and real-world datasets, enabling robust patient stratification, cohort definition, and integration with genomics and biomarker data. This position is ideal for a technically strong investigator who thrives in a fast-paced environment and is motivated to apply and scale high-impact data science infrastructure alongside a growing team.
Responsibilities and Duties
  • Design and deploy AI-driven, agent-based phenotyping pipelines that leverage EMR/EHR and real-world data to define disease cohorts, endpoints, and longitudinal outcomes.
  • Develop scalable approaches for cohort identification, feature extraction, and phenotype validation, including rule-based and machine learning methods.
  • Maintain high-throughput rare variant curation and classification models.
  • Execute the design, development, and deployment of data analysis pipelines, statistical models, and predictive tools to support Genetics-led programs.
  • Lead hands-on integration of clinical, EMR, genomics, and biomarker datasets, enabling multi-modal analyses.
  • Build and maintain reproducible workflows for data ingestion, harmonization (e.g., coding systems, ontologies), QC, and analysis (SQL, Python, R).
  • Apply statistical genetics and advanced analytics to link phenotypic definitions with genetic signals, including rare variant analyses.
  • Drive improvements in data infrastructure and phenotyping frameworks to support team expansion and increased dataset complexity.

Qualifications and Skills
  • Ph.D. in Biostatistics, Computational Biology, Genetics, Data Science, or related quantitative field.
  • ~5+ years of relevant experience in biotechnology, pharmaceuticals, or healthcare analytics.
  • Experience with neuroendocrine, obesity/metabolic-related biology and datasets.
  • Experience applying machine learning and AI models to real-world and clinical datasets, including model development, evaluation, and deployment in production or near-production settings.
  • Experience developing or utilizing AI-driven agents/workflows to automate data extraction, phenotyping, analysis, or knowledge generation tasks.
  • Strong hands-on expertise in SQL, Python, and R, with experience building production-quality data pipelines.
  • Experience with cloud computing and storage environments including AWS, GCP, Snowflake.
  • Demonstrated experience with variant calling pipelines, variant interpretation and ACMG rare variant classification.
  • Demonstrated experience in EMR/EHR and real-world data analysis (e.g., UK Biobank, All of Us) including cohort building and longitudinal data modeling.
  • Proven track record in algorithmic phenotyping, including use of coding systems (ICD, CPT, SNOMED), clinical ontologies, and feature engineering.
  • Familiarity with broader bioinformatics/multi-omics methodologies including RNA-seq, methylation analysis, long-read sequencing would be advantageous.
  • Strong problem-solving skills and ability to operate independently in a fast-paced, execution-focused environment.
  • Excellent communication skills with the ability to clearly present complex analytical outputs to technical stakeholders.

This role can be remote or based out of our corporate office in Boston, Massachusetts. Rhythm operates in a hybrid-work model. Candidates applying must be willing and able to be in the Boston office in coordination with their department and business needs. This role may involve some travel.
More about Rhythm
We are a dynamic and growing global team spanning more than a dozen countries. At Rhythm we are dedicated to transforming the lives of patients living with rare neuroendocrine diseases by rapidly advancing care and precision medicines that address the root cause. Our team is passionate about expanding access to reach more patients and developing novel therapies for other rare neuroendocrine diseases, including congenital hyperinsulinism. 
At Rhythm our core values are:
  • We are committed to advancing scientific understanding to improve patients’ lives
  • We are inspired to tackle tough challenges and have the courage to ask bold questions
  • We are eager to learn and adapt
  • We believe collaboration and ownership are foundational for our success
  • We value the unique contribution each individual brings to furthering our mission

Inherent in our core values is the commitment to act ethically and with integrity in all we do.
Rhythm is an equal employment opportunity employer and does not discriminate against any applicant because of race, creed, color, age, national origin, ancestry, religion, gender, sexual orientation, disability, genetic information, veteran status, military status, application for military service, or any other class protected by state or federal law.
Headquartered in Boston, Rhythm is proud to have been named one of the Top Places to Work in Massachusetts.
 

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