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Associate Variant Curation Scientist

4 months ago


Gaithersburg, United States GeneDx Full time

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 or Sun-Thurs.

**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.

**Education and/or Experience**
- PhD in medical technology, chemical, physical, or biological sciences.

**Budgeted Pay Range**: $77,000 - $87,000

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**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.

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**_ _**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.