
Clinical Genomic Scientist β WGS
Posted 3 days ago

Posted 3 days ago
This is a fully remote position, open to applicants in United States.
β’ Evaluate clinical genetics and genomics data.
β’ Curate variants, genes, and gene-disease associations in accordance with ACMG guidelines.
β’ Choose variants for curation and verification.
β’ Implement HGVS guidelines for variant naming conventions.
β’ Compile findings for clinical documentation.
β’ Support laboratory directors and R&D in validating innovative technologies and software solutions.
β’ Compose clinical reports.
β’ Assist with test validation and process optimization.
β’ Present findings effectively.
β’ Track test turnaround times.
β’ Assign tasks as needed.
β’ Engage in virtual meetings.
β’ PhD or MD in clinical medicine, genetics, molecular biology, or a related field.
β’ Alternatively, a Masterβs degree with relevant experience may be acceptable.
β’ 2β4 years of experience in variant curation.
β’ Familiarity with the American College of Medical Genetics (ACMG) variant curation guidelines.
β’ Understanding of genomic variation and its relationship with human diseases.
β’ Proficiency in clinical medicine, genetics, genomics, or molecular biology.
β’ Experience in assessing data quality.
β’ Strong ability to communicate genetic information effectively.
β’ Excellent reading and writing skills in medical terminology.
β’ Competency in Microsoft Office Suite (Excel, Word, PowerPoint, Outlook).
β’ Experience in bioinformatics analysis, variant effect prediction algorithms, and scripting languages is preferred.
β’ MB(ASCP) certification is a plus.
β’ Proven experience in independent variant interpretation.
β’ Background in complex case review and phenotype correlation.
β’ Experience with multi-gene panel and exome interpretation.
β’ Advanced skills in literature review and evidence assessment.
β’ Familiarity with SOPs, CAP, and CLIA standards.
β’ Participation in discrepancy resolution and consensus review.
β’ Strong clinical reporting and communication abilities.
β’ Skills in cross-functional collaboration.
β’ Flexible remote work options.
β’ Commitment to equal opportunity and an inclusive workplace.
β’ Support during the application process for accommodations.
β’ Occasional weekend rotation may be needed (approximately once a month).
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