Variant Curator

The Position

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.

Benefits Overview

• Comprehensive medical, dental, and vision insurance coverage
• 401(k) with company matching
• Paid time off (PTO)
• Paid volunteer time off
• Fully remote work with home office stipend
• Parental bonding leave
• Clinical-grade whole genome sequencing for you and your family (private and confidential)

Join Sequencing

• Redefine how people understand themselves through their DNA
• Build category-defining products alongside scientists, engineers, and innovators
• Contribute to technology that will improve and extend millions of lives
• Shape one of the most important emerging categories in AI and healthcare