Compensation:

$90,000 - $117,000 per year. You are eligible for a Short-Term Incentive Plan with the target at 5% of your annual earnings; terms and conditions apply.

Variant Assessment Scientist I/II, Rare Disease: Exome/Genome – Remote US

Responsibilities include variant analysis of diagnostic molecular genetic test results; evaluation of published literature, clinical data and review of both functional and in silico data to provide accurate, thorough, and thoughtful clinical interpretation of results. Write research articles in collaboration with other medical professionals and colleagues outside and inside the organization, if data is relevant to the scientific community. Additional responsibilities as designated by supervisor/manager and/or with increasing seniority (Variant Assessment Scientist II, Senior Variant Assessment Scientist). 

Essential Functions:

• Write and interpret molecular test results, including relevant medical literature reviews and summary 

• Participate in updating variant classification guidelines and developing gene specific classification guidelines 

• Research novel ways to assess sequence variants 

• Manage and follow guidelines of variant pre-classification workflow to maximize reporting results within published turn-around times 

• Assist in the development of gene specific tools and database of gene specific information for variant assessment  

• Other duties as assigned  

Qualifications:

• PhD and/or MD with expertise in molecular genetics, human genetics, molecular pathology or related field. MS in molecular biology, genetics or a related field with exceptional expertise and outstanding job performance is also considered 

• Must have exome and/or genome variant interpretation/analysis experience 

• Thorough and ongoing knowledge of current theories and principles of human genetics 

• Excellent written and verbal communication skills to convey difficult information in a clear, kind, and respectful manner 

• Willingness and ability to work in and contribute to a fast-paced, highly collaborative environment 

Preferred:

• Prior experience in reporting specialty and variant assessment 

• Prior experience in analysis and interpretation of short-read or long-read whole genome sequencing data 

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