Associate Variant Curation Scientist

Posted 21 Hours Ago
Be an Early Applicant
Hiring Remotely in United States
Remote
77K-87K Annually
Entry level
Healthtech • Biotech
The Role
The Associate Clinical Variant Scientist performs independent interpretation of variants for clinical DNA specimens to diagnose genetic diseases or screen for genetic diseases, using automated and manual methods in a team environment, following established policies and procedures professionally.
Summary Generated by Built In

GeneDx (Nasdaq: WGS) delivers personalized and actionable health insights to inform diagnosis, direct treatment, and improve drug discovery. The company is uniquely positioned to accelerate the use of genomic and large-scale clinical information to enable precision medicine as the standard of care. GeneDx is at the forefront of transforming healthcare through its industry-leading exome and genome testing and interpretation services, fueled by the world’s largest, rare disease data sets. For more information, please visit www.genedx.com.

The Associate Clinical Variant Scientist performs an independent role in the interpretation of variants for clinical DNA specimens for the purpose of diagnosing genetic diseases or screening for genetic diseases, using automated and manual methods in a team environment, and following established policies and procedures in a professional manner.

Required Shift:   Tues-Sat

General Responsibilities: 

  • Efficiently evaluates and provides assessment of pathogenicity for detected DNA sequence variants and/or DNA Copy Number Variations (CNVs) following standard procedures and policies.
  • Efficiently reviews data (Sanger sequencing, next generation sequencing, whole exome sequencing/whole genome sequencing, exon microarray, MLPA, qPCR, genome microarray, etc.) and approves results (case-level review) according to standard procedures and policies.
  • Provides clear and error-free records of findings for report writers.
  • Analyzes proficiency testing samples in the same manner as patient testing.
  • Meets or exceeds annual continuing education requirements.
  • Additional duties maybe assigned.

Education and/or Experience 

  • PhD in medical technology, chemical, physical, or biological sciences. 


Pay Transparency, Budgeted Range

$77,000$87,000 USD

~

Science - Minded, Patient - Focused. 

At GeneDx, we create, follow, and are informed by cutting-edge science. With over 20 years of expertise in diagnosing rare disorders and diseases, and pioneering work in the identification of new disease-causing genes, our commitment to genetic disease detection, discovery, and diagnosis is based on sound science and is focused on enhancing patient care.

Experts in what matters most. 

With hundreds of genetic counselors, MD/PhD scientists, and clinical and molecular genomics specialists on staff, we are the industry’s genetic testing experts and proud of it. We share the same goal as healthcare providers, patients, and families: to provide clear, accurate, and meaningful answers we all can trust.

SEQUENCING HAS THE POWER TO SOLVE DIAGNOSTIC CHALLENGES.

From sequencing to reporting and beyond, our technical and clinical experts are providing guidance every step of the way:

TECHNICAL EXPERTISE

  • High-quality testing: Our laboratory is CLIA certified and CAP accredited and most of our tests are also New York State approved.
  • Advanced detection: By interrogating genes for complex variants, we can identify the underlying causes of conditions that may otherwise be missed.

CLINICAL EXPERTISE

  • Thorough analysis: We classify variants according to our custom adaptation of the most recent guidelines. We then leverage our rich internal database for additional interpretation evidence.
  • Customized care: Our experts review all test results and write reports in a clear, concise, and personalized way. We also include information for research studies in specific clinical situations.
  • Impactful discovery: Our researchers continue working to find answers even after testing is complete. Through both internal research efforts and global collaborations, we have identified and published hundreds of new disease-gene relationships and developed novel tools for genomic data analysis. These efforts ultimately deliver more diagnostic findings to individuals.

Learn more About Us here.
~

 Benefits include:

  • Paid Time Off (PTO)
  • Health, Dental, Vision and Life insurance
  • 401k Retirement Savings Plan
  • Employee Discounts
  • Voluntary benefits

GeneDx is an Equal Opportunity Employer.
All privacy policy information can be found here.

Top Skills

Exon Microarray
Genome Microarray
Mlpa
Next Generation Sequencing
Qpcr
Sanger Sequencing
Whole Exome Sequencing
Whole Genome Sequencing
The Company
HQ: Stamford, Connecticut
802 Employees
On-site Workplace

What We Do

GeneDx is focused on delivering personalized, actionable insights that improve health outcomes. We sit at the intersection of diagnostics and data science, pairing decades of genomic expertise with an unmatched ability to interpret clinical data at scale.

Our exome and genome testing is among the best in the industry. We expect that it will be even more advanced in the future with the help of Centrellis®, our innovative health information platform. Powered by millions of medical records, Centrellis® integrates digital tools with artificial intelligence to ingest and synthesize clinical and genomic data.

As a result of our robust test menu, including our exome and genome testing, and the comprehensive insights generated by Centrellis®, we are developing a more complete understanding of complex disease than ever before. This translates to faster diagnosis, more effective treatment plans, and enhanced drug discovery.

Our offerings help a whole spectrum of healthcare partners -- clinicians, researchers, health systems, pharmaceutical companies, and payors -- improve patient experiences and advance population health

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