
Clinical Genomic Scientist – Report Writing
Posted 9 hours ago

Posted 9 hours ago
This is a fully remote position, open to applicants in United States.
• Evaluate clinical genetics data
• Curate variants, genes, and gene-disease associations in accordance with ACMG guidelines
• Summarize results for clinical documentation
• Support laboratory directors and R&D in the validation of innovative technologies and software platforms
• Choose variants for curation and verification
• Implement HGVS guidelines for variant nomenclature
• Compose clinical reports
• Engage in test validation and process enhancement
• Present research findings
• Track test turnaround times
• Assign tasks to team members
• A PhD or MD in clinical medicine, genetics, molecular biology, or a related field is mandatory; or a Master’s degree accompanied by relevant experience for exceptionally qualified candidates
• 2–4 years of experience in variant curation
• Acquaintance with the American College of Medical Genetics (ACMG) variant curation protocols
• Understanding of genomic variation and its relationship with human diseases
• Proficiency in clinical medicine, genetics, genomics, or molecular biology
• Experience in assessing data quality and effectively communicating genetic information
• Exceptional skills in reading and writing medical terminology
• Competence in Microsoft Office Suite (Excel, Word, PowerPoint, Outlook)
• Experience with bioinformatics analysis, variant effect prediction tools, and scripting languages is preferable
• Preferred MB(ASCP) certification
• Background in independent variant interpretation
• Experience with reviewing complex cases and correlating phenotypes
• Familiarity with multi-gene panel and exome interpretation
• Strong literature review and evidence evaluation skills
• Data quality assurance and analytical capabilities
• Knowledge of SOPs, CAP, and CLIA regulations
• Participation in discrepancy resolution and consensus review
• Proficient clinical reporting and communication abilities
• Skills in cross-functional collaboration
• Commitment to an equal opportunity and inclusive workplace
• Support for accommodations during the application process
• Flexibility for remote work arrangements
• Potential for occasional weekend rotations, such as once a month
Everyday Health
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Bold
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