Clinical Genomics Scientist I

Summary

Join Helix's Department of Clinical Genomics, a new and exciting team within a growing company, as a Clinical Genomics Scientist I. You will play a key role in variant and gene assessments, data review, report writing, and workflow development. This position offers ample opportunity for growth and collaboration within a supportive team environment. You will contribute to the overall success of the team and company by working on a variety of tasks and bringing your ideas to the table. The role requires a strong background in molecular genetics and clinical variant classification. Helix offers a competitive salary, bonus, equity, and comprehensive benefits package.

Requirements

• MS or PhD degree with expertise in molecular genetics, human genetics, molecular pathology, or related fields
• At least 2+ years of experience in clinical variant classification preferably in one or more of the following disease areas: Cardio, Epilepsy, Parkinson’s and Polycystic Kidney Disease
• Working knowledge of ACMG/AMP Variant Classification Guidelines and their modifications by ClinGen expert panels
• Familiarity with human mutation databases, genome browsers, HGVS nomenclature, and in-silico variant pathogenicity predictors
• Able to perform technical writing, as well as strong communication and computer skills
• Excellent analytical skills and attention to detail
• Able to critically read and distill data from the scientific literature
• Must be able to adjust to shifting priorities according to workload or business needs
• Able to critically assess and augment processes and workflows

Responsibilities

• Be responsible for variant and gene assessments including researching the significance of variants in published literature and clinical data, evaluating evidence for gene-disease associations, and performing data review
• Perform technical review of sequencing data derived from NGS, including genome, exome, panel, and single-site variant data, as well as other molecular assay data
• Troubleshoots complex cases
• Compile interpretive variant summaries and contribute to clinical report writing
• Contribute to in-house interpretation workflow development of process documentation
• Communicate clearly with internal and external stakeholders, such as genetic counselors, physicians, lab staff, and product developers
• Maintain laboratory variant knowledgebase and assists with curation and harmonization of variant classification changes over time
• Perform variant classification quality controls and maintain quality management programs according to written policies and procedures
• Actively participate in continuing education series including journal clubs, complex variant discussions/presentations, and conferences, as needed
• Train junior team members, as needed
• Contribute to research projects as necessary

Preferred Qualifications

• Experience with gene-disease validity curations based on ClinGen protocols
• Familiarity with Integrative Genomics Viewer
• Experience in cardio and/or cancer disease area

Benefits

• Comprehensive Health Insurance with Date of Hire eligibility
• Above average employer paid premium coverage
• 12 weeks Helix Paid Parental Leave option
• 401(k) with employer matching of up to 3% and 100% Vesting on the Date of Hire
• Comprehensive Well-Being Benefits
• 18 well-being programs covering financial, legal and wellness solutions
• Flexible PTO
• Remote options for many roles and a home office stipend
• Expected Helix Base: $78,000 - $120,000
• Expected Helix Discretionary Annual Bonus: 10% of your annual salary
• Equity: We offer generous equity at Helix. If you receive a Helix offer your recruiter will book dedicated time with you to educate you on our equity model