Review and analyze variant reports and raw NGS/WGS data, investigate and classify unsubmitted ClinVar variants, link unclassified variants to conditions, support customer troubleshooting, and help refine AI prompts and classification methodologies.
Sequencing is building the interface between humanity and its DNA.
Using clinical-grade whole genome sequencing, AI, and a rapidly expanding ecosystem of genomic applications, we help people better understand themselves, their health, and their future through their DNA.
The human genome is one of the most valuable and underutilized resources in the world. Our mission is to transform the human genome into a lifelong source of personalized guidance and build the trusted home for every genome on Earth.
As the world’s largest direct-to-consumer whole genome sequencing platform, Sequencing is helping define the future of AI-powered personalized health.
We’re a profitable, venture-backed, fully remote company building category-defining products that help people better understand themselves through their DNA.
Sequencing.com is seeking a Variant Curator to support the accuracy and reliability of genetic variant interpretation. This role will involve reviewing reports, analyzing genomic data, and improving variant classification methodologies to enhance customer insights.
Responsibilities
- Review variant reports for inconsistencies in variant calling and data interpretation.
- Investigate and classify variants associated with conditions that have not yet been submitted to ClinVar.
- Enhance the value of ClinVar data by associating unclassified variants with known conditions.
- Analyze raw genetic data files to support customer inquiries and troubleshooting.
- Contribute to the development and refinement of AI prompts for improved genetic accuracy in AI-driven variant interpretation.
Qualifications
- 2+ years experience with variant classification and genomic databases (ClinVar, gnomAD, HGMD).
- Familiarity with NGS data analysis and raw genetic data interpretation.
- Strong analytical skills and attention to detail.
- Excellent written and verbal communication skills.
- Experience in clinical variant interpretation or curation.
- Excellent problem-solving skills, attention to detail, and ability to work independently.
- Knowledge of Python or R for data analysis.
- Experience with bug tracking and Agile tools such as JIRA and Confluence.
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