Variant Curator

#### **The Position**

<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.

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### **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.

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### **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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