Clinical Genomics Scientist I

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 and viral surveillance 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.

We are continuing to scale our world-class team to support our dedication to empowering every person to improve their life through DNA. 

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, you will:

• 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.
• Performs 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.
• Compiles interpretive variant summaries and contributes to clinical report writing.
• Contributes to in-house interpretation workflow and development of process documentation.
• Communicate clearly with internal and external stakeholders, such as genetic counselors, physicians, lab staff, and product developers.
• Maintains laboratory variant knowledgebase and assists with curation and harmonization of variant classification changes over time.
• Performs variant quality controls and maintains quality management programs according to written policies and procedures.
• Actively participates in continuing education series including journal clubs, complex variant discussions/presentations, and conferences, as needed.
• Trains junior team members, as needed.
• Contributes to research projects as necessary.

About you:

• MS or PhD with expertise in molecular genetics, human genetics, molecular pathology, or related fields.
• At least 2+ years of experience in clinical variant classification, preferably in cardio and/or cancer genetics.
• 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. 

What’s important to us:

• Curiosity — we are all passionate about the possibilities enabled by having access to your own genome
• Responsibility — we have an obligation to people and our partners to operate with highly credible research guided by well respected advisors, with clear and effective communication about our products
• Agility — flexibility and a desire to be nimble, smart, and effective are important to the Helix culture
• Follow-through — we’re building a diverse team with amazing track records of achievement in multidisciplinary environments

What Helix has to offer you:

Aside from working alongside brilliant, dedicated, passionate, down-to-earth, curious, warm, and thoughtful people, we also provide great benefits:

• Competitive compensation, Comprehensive Health insurance package including employer sponsored HSA 
• 12 weeks of Maternity or Paternity leave
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