Clinical Genomics Scientist I - US Remote Capable

You + Helix

Helix is a place where innovators and doers gather in order to drive significant progress in population genomics. We have come together to work at the intersection of clinical care, research, and genomics.  

If you’re excited by the idea of making a meaningful impact and joining a team where we pride ourselves on driving innovation through fostering an environment with an emphasis on empowering one another to grow, Helix might be the place for you!

Helix + The World

Helix is the leading population genomics company. Helix enables health systems, public health organizations and life science companies to accelerate the integration of genomic data into patient care and public health decision making.

Helix + Transparency

At Helix, we value transparency. You will find the expected compensation, interview process, what to anticipate during onboarding, and your first 90 days listed in the job description for all Helix roles.

What is special about this role?

The Department of Clinical Genomics is new to Helix, it is like a start-up within a start-up with ample opportunity for growth. You will be working on a variety of tasks,  have the opportunity to bring your ideas to the table, and contribute to the overall success of our team and the company. In the Clinical Genomics team, you will enjoy a strong sense of community and will have the support you need to ensure you can deliver on the expectations of your role. 

 

As a Clinical Genomics Scientist I, you will:

• 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.

 

About you:

• 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.

 

Pluses:

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

Reasonable accommodations may be made to enable individuals with disabilities to perform the essential functions. For more information or to make an accommodation request reach out to HR@helix.com. 

 

Expected Interview Process:

1) Recruiter Screen 2) Manager Screen/Tech Screen 3) Onsite  4) Offer 

 

Expected Pay For This Role:

There are 3 distinct parts to your Helix offer: 1) Base Salary  2) Annual Bonus 3) Equity 

 

Expected Helix Base: $78,000 - $120,