Genomic Variant Scientist I - Remote

The Women's Health and Genetics division of LabCorp is seeking a Variant Scientist to join our Variant Science Group (VSG) team. This position will perform technical and non-technical analysis to classify DNA sequence variants from high complexity genetic testing according to established standard operating procedures and protocols. Utilizes internal data, bioinformatics tools, and published resources to classify variants identified through sequencing assays into designated classification categories. Performs gene-disease association curation according to established protocols.

Please note: this is a 100% remote position. Candidate can be located anywhere in the US.

The schedule for this position will be Monday - Friday, 8am-5pm local time zone.

Responsibilities:

• Processes and classifies DNA sequence variants and/or DNA Copy Number Variants (CNVs) identified through sequencing platforms in accordance with company SOPs
  • Utilizes in-house rule-based classification workbench to evaluate and score variants for classification
  • Employs bioinformatics tools and resources to aid in variant classification
  • Performs search of published literature and databases as needed for each variant classified
  • Carefully curates content in variant classification worksheets in a traceable and concise manner
  • Upon completion of classification, exports report for review by reporting directors and genetic counselors to support external client requests
• Performs gene-disease association curation according with company protocols
• Researches and interprets variants from whole exome or whole genome sequencing and assesses their clinical relevance by correlating findings with clinical information
• Maintains tracking documents in relation to the variant classification
• Ensures that variants are classified in adherence to established rules of HGVS nomenclature
• Ensures that variants are classified in a timely manner in accordance with production timelines
• Ensures required communication regarding variant classification is performed in a timely manner
• Participates in variant scientist team discussions and meeting
• Attends scientific meetings of relevance to the department and company when required

• PhD in Life Sciences (Genetics, Molecular Biology or Biological fields) or Master's in Genetic Counseling required
• Minimum 1 year of experience in classifying variants based on ACMG guidelines in a clinical setting required
• A strong background in Human Genetics as well as familiarity with human mutation databases and HGVS nomenclature is required
• Strong analytical capabilities, scientific writing and communication skills, organization, and the ability to critically review, comprehend, ascertain and document relevant clinical and functional data from scientific publications and online databases
• Ability to use bioinformatics software and Microsoft Office suite of products (specifically use of Microsoft Excel to mine, parse and automate analysis of datasets)
• Proficiency with large NGS datasets, in-silico tools, HGVS nomenclature, and genome browsers
• Ability to meet production timelines with a sense of urgency and ethical responsibility in a rapidly evolving dynamic setting