Genomic Variant Curator

Job Summary

To enhance customer insights, the full-time remote Variant Curator will review variant reports, analyze genomic data, and improve classification methodologies for genetic variant interpretation.

Key responsibilities

• Review variant reports for inconsistencies in variant calling and data interpretation
• Investigate and classify variants associated with conditions not yet submitted to ClinVar
• Analyze raw genetic data files to support customer inquiries and troubleshooting

Required qualifications

• 2+ years experience with variant classification and genomic databases (ClinVar, gnomAD, HGMD)
• Familiarity with NGS data analysis and raw genetic data interpretation
• Experience in clinical variant interpretation or curation
• Knowledge of Python or R for data analysis
• Experience with bug tracking and Agile tools such as JIRA and Confluence