Curation Scientist Step I
About The Position
This is the first step of the Genetic Curation Scientist career track. The Genetic Curation Scientist (GCS) Step 1 will be responsible for the classification of genetic variants following the ACMG guidelines (PMID: 25741868) and using a combination of internal proprietary software, published scientific literature, and publicly available databases. The GCS will determine the pathogenicity of DNA sequence variants found in real-time in patients and will customize clinical report text in collaboration with laboratory directors and genetic counselors. The GCS is also responsible for quality control, technical assessment, copy number analysis, and other interpretive components of molecular diagnostics as outlined in the curation standard operating procedures.
Requirements
- PhD in Human Genetics or appropriately related field; OR MD with a strong molecular genetics background or previous DNA sequencing reporting experience.
- Familiarity with Mendelian genetics and a thorough knowledge of molecular genetics.
Nice To Haves
- Proven ability to critically read and interpret scientific literature.
- Strong scientific, and organizational skills.
- Outstanding attention to detail and efficient work habits.
- Excellent communication (oral and written).
- Ability to work independently and as part of a team with self-motivation, adaptability, and a positive attitude.
- Ability to learn new techniques, perform multiple tasks simultaneously, keep accurate records, follow instructions, and comply with company policies.
Responsibilities
- Perform quality control assessment for Next Generation Sequencing and other molecular diagnostic assays.
- Classify detected variants according to internal and professional guidelines.
- Draft clinical lab reports according to internal and professional standards; reports will be submitted to a laboratory director for final review and sign-out.
- Review literature and databases to evaluate gene-disease association.
- Review and update genetic variations based on new information.
- Support the Client Services Department and Laboratory Genetic Counselors to respond to client requests for information on the interpretation of variants.
- Participate in research & development projects as they arise.
Benefits
- Health, dental, vision, disability, life and AD&D insurance
- FSA and HSA plans
- Employee Assistance Program
- 401K plan
- Vacation time
- Annual sick leave
- Company-paid holidays
- Continuous education allowance
- Employee referral bonus program
- Childcare and commute allowance
- Voluntary elective benefits such as pet insurance, legal plan, accident, critical illness, and hospital indemnity insurance
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What This Job Offers
Job Type
Full-time
Career Level
Mid Level
Education Level
Ph.D. or professional degree
