Variant Assessment Scientist I – Cardiology

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Logo of Ambry Genetics

Ambry Genetics

501 - 1000 employees

Founded 1999

🏥 Healthcare

💼 Consulting

🧬 Biotechnology

💰 Series unknown on 2017-11

Healthcare • Consulting • Biotechnology

Ambry Genetics is a clinical diagnostic laboratory specializing in advanced genetic testing for hereditary cancer, rare disease, and other inherited conditions. The company offers DNA and paired DNA/RNA testing (including +RNAinsight®), exome sequencing with proactive reanalysis (Patient for Life), and lab-supported digital care tools (Ambry CARE) to help identify at-risk patients, facilitate testing, and report actionable results. Ambry also conducts translational genomics research and collaborates with academic and industry partners to improve variant classification and diagnostic yield.

📋 Description

• Analyze variants from diagnostic molecular genetic test results • Evaluate published literature, clinical data, functional data, and in silico data • Provide accurate, thorough, and thoughtful clinical interpretation of results • Write research articles with medical professionals and internal and external colleagues • Write and interpret molecular test results, including medical literature reviews and summaries • Participate in updating variant classification guidelines and developing gene-specific classification guidelines • Research novel ways to assess sequence variants • Manage and follow variant pre-classification workflow guidelines to maximize reporting within published turnaround times • Train new variant team members or clinical team members • Perform additional responsibilities designated by the supervisor/manager and assume responsibilities with increasing seniority

🎯 Requirements

• PhD and/or MD with expertise in molecular genetics, human genetics, molecular pathology or related field • MS in molecular biology, genetics or related field with exceptional expertise and outstanding job performance may also be considered • Minimum +2 years of experience with variant assessment • Thorough and ongoing knowledge of current theories and principles of human genetics • Excellent written and verbal communication skills • Willingness and ability to work in and contribute to a fast-paced, highly collaborative environment • Prior experience in variant assessment and reporting specialty preferred • Cardiology experience preferred • Industry experience

🏖️ Benefits

• Incentive compensation may be offered • Restricted stock units may be offered • Medical and other benefits depending on the position

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