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Ngs Variant Interpretation Jobs (NOW HIRING)

Quest Diagnostics

Sr. Scientist (NGS/LRS)

Marlborough, MA · On-site

$103K/yr

Under the Associate Scientific Director, the Senior Scientist will use technical expertise of NGS ... Deep understanding of genomics and genetics, including variant interpretation and solutioning for ...

Scisco Genetics

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Bioinformatics Scientist / Genomic Data Analyst

Seattle, WA · On-site

$95K - $115K/yr

... control, variant calling, annotation, and downstream interpretation. * Investigate genetic ... NGS) services and products for genotyping complex immune gene systems, including HLA, KIR, MICAB ...

Tuskegee University

Demonstrated expertise in NGS data analysis, including quality control, alignment, variant calling, and downstream interpretation. * Proficiency with bioinformatics tools (e.g., GATK, samtools ...

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How much do ngs variant interpretation jobs pay per year?

As of Jun 14, 2026, the average yearly pay for ngs variant interpretation in the United States is $83,348.00, according to ZipRecruiter salary data. Most workers in this role earn between $49,000.00 and $111,000.00 per year, depending on experience, location, and employer.

What is NGS variant interpretation?

NGS variant interpretation is the process of analyzing genetic variants identified through Next-Generation Sequencing (NGS) technology to determine their potential impact on health, disease, or traits. This involves filtering, annotating, and classifying variants according to established guidelines, such as those from the American College of Medical Genetics and Genomics (ACMG). Professionals in this field use bioinformatics tools and databases to interpret the clinical significance of genetic changes and often communicate their findings to clinicians or researchers for decision-making in healthcare or research settings.

What is the difference between Ngs Variant Interpretation vs Genetic Counselor?

AspectNgs Variant InterpretationGenetic Counselor
Required CredentialsCertification in genetics or molecular diagnostics, often a laboratory certificationMaster's degree in genetics, counseling, or related field; certification (ABGC, NSGC)
Work EnvironmentLaboratory setting, analyzing genetic data and variantsClinical setting, providing patient counseling and education
Industry UsageUsed primarily in diagnostic labs and research institutionsUsed in hospitals, clinics, and healthcare facilities
Primary FocusInterpreting genetic variants from NGS dataCommunicating genetic information and implications to patients

While Ngs Variant Interpretation specialists focus on analyzing and interpreting genetic data within laboratories, Genetic Counselors work directly with patients to explain genetic information and its health implications. Both roles require a strong understanding of genetics but serve different functions within the healthcare and diagnostics industry.

What are some of the main challenges faced when interpreting NGS variants, and how can professionals address them?

One of the main challenges in NGS variant interpretation is distinguishing between benign and pathogenic variants, especially when dealing with variants of uncertain significance (VUS). Professionals must stay updated with the latest research, utilize comprehensive databases, and collaborate closely with geneticists, clinicians, and bioinformaticians to ensure accurate interpretation. Regular participation in multidisciplinary team meetings and continuous professional development are essential for overcoming these challenges and delivering clinically actionable insights.

What are the key skills and qualifications needed to thrive as an NGS Variant Interpretation Specialist, and why are they important?

To thrive as an NGS Variant Interpretation Specialist, you need a solid background in genetics, molecular biology, and bioinformatics, often supported by an advanced degree in a life science field. Familiarity with next-generation sequencing (NGS) platforms, databases like ClinVar and HGMD, and analysis tools such as GATK and ANNOVAR is typically required. Strong analytical thinking, attention to detail, and effective communication skills help in interpreting complex genomic data and conveying findings to clinicians or researchers. These skills are crucial for ensuring accurate variant classification, supporting clinical decision-making, and advancing personalized medicine.
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Ngs Variant Interpretation jobs near you
Sr. Scientist (NGS/LRS)

Sr. Scientist (NGS/LRS)

Quest Diagnostics

Marlborough, MA • On-site

$103K/yr

Full-time

Posted 4 days ago

ExamOne rating

6.2

Company rating: 6.2 out of 10

Based on 8 frontline employees who took The Breakroom Quiz

88th of 103 rated laboratories

Job description

Job Description
Quest's Molecular Genetics department located in Marlborough, MA, is looking for a highly motivated and proactive Senior Scientist to drive next-generation and long-read sequencing (NGS/LRS) assay development.
Under the Associate Scientific Director, the Senior Scientist will use technical expertise of NGS/LRS biochemistry, understanding of sequencing data analysis, and genetics knowledge to autonomously conduct research project(s) under the umbrella of large initiatives within Quest's Specialty Genetics and Women's Health portfolios. The senior scientist will lead the design and execution of complex development projects, ensuring high quality deliverables that meet the standards of laboratory-developed diagnostic tests and project timelines. Come join a collaborative team of laboratory and automation R&D scientists and partner with experts across Bioinformatics, IT, Variant Science, and other functions to develop the next generation of molecular diagnostic solutions.
Responsibilities
  • Leads projects, coordinates timelines, and ensures deliverables are met within the prescribed time.
  • Independently designs, executes, analyzes and documents complex experiments within a specific product or technology area.
  • Interprets results of experiments, using data analysis, genomics, and statistics knowledge, and recommends alternative approaches. Presents experimental results to project team members.
  • Effectively utilizes and applies advanced molecular methods or technologies.
  • Collaborates with colleagues in other disciplines, specifically automation, bioinformatics, medical, operations, and variant science, in cross-functional project teams.
  • Ensures compliance with all regulatory agency requirements through documentation, audits, and corrective action.
  • Defines standard operating procedures and laboratory protocols.
  • Collaborates with partners with software developers and laboratory stakeholders to build and deploy LIMs integrations supporting automated molecular testing workflows.
  • May attend technical conferences or seminars. Maintains knowledge of technological developments that may assist in the completion of an assignment or lead to new products, processes, or procedures.
  • Collaborates and interacts with vendors on significant technical matters and procurement topics.
  • Acts as a liaison with the Operations team and the department managers to coordinate and accomplish the implementation of new tests and modifications. Serves as a technical resource, providing operational hypercare.

Qualifications
Required Experience:
  • Ph.D. in molecular biology, genetics, biochemistry, microbiology, or closely related scientific discipline with a minimum of 1-3 years of relevant industry and/or post-doctoral experience.
  • B.S. or M.S. in a relevant scientific discipline with equivalent experience demonstrating the skills and competencies required for the role.
  • Exceptional candidates with alternative combinations of education and experience will be considered based on overall qualifications and fit.
  • Deep technical understanding of all aspects of Illumina-based next generation sequencing: biochemistry, sequencing data analysis, and statistics.
  • Technical understanding and hands-on experience of all aspects of PacBio HiFi LRS and Oxford Nanopore sequencing.
  • Deep understanding of genomics and genetics, including variant interpretation and solutioning for complex event calling.
  • Team player with strong communication and interpersonal skills. Proactive approach to problem-solving.

Preferred Experience:
  • Experience working with and optimizing automated molecular workflows
  • Experience with developing standard operating procedures and training operational teams
  • Understanding applicable regulatory standards and requirements (CLIA, CAP, NYS)
  • Hands-on experience with automation platforms (Hamilton, Tecan, Agilent)
  • Experience in supporting life-cycle management and continuous improvement initiatives for in-production assays

Physical and Mental Requirements:
  • While performing the duties of this job, the employee is frequently required to use hands to handle or feel objects, tools or controls, and reach with hands and arms in the operation of equipment or instruments located in the work environment.
  • The employee must frequently lift and/or move up to 10 pounds and occasionally lift and/or move up to 25 pounds.
  • Specific vision abilities required by this job include close vision and depth perception.
  • Job duties are performed in a laboratory environment utilizing standard lab equipment.
  • Some operations include the use of chemicals which require following safe handling procedures.
  • The employee is frequently required to sit and stand; and is occasionally required to walk and stop.
  • The noise level in the work environment is usually moderate.
  • Work performed in designated areas may require the use of appropriate safety precautions and protective equipment.
  • Must be able to work in a biohazard environment and comply with safety policies and procedures outlined in the Environmental Health & Safety Manual.

Knowledge:
  • Knowledge of lab operations
  • Ability to work with and coordinate vendors and contracts.

Skills:
  • Must be able to work in a fast paced, multi-tasking environment and maintain production and quality standards determined by the department.

About the Team
Quest Diagnostics honors our service members and encourages veterans to apply.
While we appreciate and value our staffing partners, we do not accept unsolicited resumes from agencies. Quest will not be responsible for paying agency fees for any individual as to whom an agency has sent an unsolicited resume.
Equal Opportunity Employer: Race/Color/Sex/Sexual Orientation/Gender Identity/Religion/National Origin/Disability/Vets or any other legally protected status.

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