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

1. Review variant reports for inconsistencies in variant calling and data interpretation.
2. Investigate and classify variants associated with conditions that have not yet been submitted to ClinVar.
3. Enhance the value of ClinVar data by associating unclassified variants with known conditions.
4. Analyze raw genetic data files to support customer inquiries and troubleshooting.
5. Contribute to the development and refinement of AI prompts for improved genetic accuracy in AI-driven variant interpretation.
6. 
   

Qualifications

1. 2+ years experience with variant classification and genomic databases (ClinVar, gnomAD, HGMD).
2. Familiarity with NGS data analysis and raw genetic data interpretation.
3. Strong analytical skills and attention to detail.
4. Excellent written and verbal communication skills.
5. Experience in clinical variant interpretation or curation.
6. Excellent problem-solving skills, attention to detail, and ability to work independently.
7. Knowledge of Python or R for data analysis.
8. Experience with bug tracking and Agile tools such as JIRA and Confluence.

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