Clinical Variant Curator/Postdoctoral Research Associate
Cincinnati Children's Hospital
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Expected Starting Salary Range: - Salary commensurate with experience.
We are looking for a highly motivated individual with a PhD (or equivalent) degree in molecular genetics, molecular biology, or related field, who is passionate in applying life science knowledge to clinical data analysis and interpretation. Candidates with a MSc in Genetic Counseling are encouraged to apply. The candidate will join a team of genomic scientists (clinical variant curators), bioinformaticians, genetic counselors, and board-certified laboratory genetics directors who perform next-generation sequencing (NGS) data processing and analysis on clinical samples. The candidate would be mainly focused on conducting variant interpretations in molecular diagnostic tests and participating in molecular test development in a clinical laboratory.
The Genetics and Genomics Diagnostic Laboratory (GGDL) is a CLIA-cExperience in a clinical genetics laboratory and/or pediatric clinical setting certified and CAP-accredited lab in the Division of Human Genetics. We combine state-of-the-art genetic testing with comprehensive interpretation of test results by board certified laboratory geneticists, board certified clinical specialists, PhD genomic scientists (clinical variant curators) and genetic counselors to offers a broad range of molecular and cytogenetics diagnostic services in support of patient care. We are engaged in collaborative interactions with clinicians, physician-scientists, and research investigators to translate scientific discoveries into robust genetic diagnostics. We are moving exome- and genome-based testing into the mainstream of pediatric diagnosis by offering comprehensive next generation sequencing technology, combined with advanced bioinformatics, to provide high-quality clinical results.
REPRESENTATIVE RESPONSIBILITIES
• Genetic data analysis - conducting variant interpretation for clinical genome sequencing, exome sequencing, NGS panel, and single gene tests. Understand medical terminologies and the functionalities of major human genetics information databases, such as OMIM, HGMD, ClinVar, and gnomAD. Review patient’s clinical history, family pedigree, and physician notes. Establish genotype–phenotype correlations, and conduct pathogenicity assessment of variants by complete evaluation of gene and variant information.
• Teamwork - effectively communicating with physicians, genomic scientists (clinical variant curators), genetic counselors, lab technologists, bioinformatics specialists, and laboratory directors. Provide specific expert opinions on variants, genes, and clinical findings. Work collaboratively with various teams within the laboratory.
• Professional communications - engaging in clinical and scientific discussions and presentations within the institute or at scientific conferences. Attend clinical meetings on exome case discussion, and present clinical findings in the molecular genetics laboratory meetings. Attend and present scientific findings at scientific conferences.
• Analysis process improvement - contributing to analysis pipeline and procedure optimization, and in-house database update and improvement. Provide professional opinions and feedback on existing pipelines, databases, as well as commercial pipelines/tools, to make differences in improving the efficiencies and qualities of the services.
• Development - contributing to the development of clinical tests, and to the establishment of standard operating protocols, policies, and other documentations. Keep track of the field of molecular diagnosis, and identify the areas of new test development. Participate in generating candidate gene lists, establishment of test procedure, and test validation.
Compensation and Benefits
- Postdoctoral Research Associates are eligible for:
- Group Health, Dental, and Vision Insurance Plans
- Paid Time Off
- Retirement Plan
- Tuition Reimbursement
- Relocation Benefits for Eligible Hires
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Living in Cincinnati
Qualifications
EDUCATION/EXPERIENCE
Required:
• Ph.D. or equivalent degree in genetics, molecular genetics, molecular biology, or relevant disciplines.
• At least 3 years of related experience in relevant fields
Preferred:
• Experience in a clinical genetics laboratory and/or pediatric clinical setting
• Experience with NGS data analysis, variant interpretation, human gene to phenotype association, and/or molecular characterization of gene functions • MSc in Genetic Counseling
Skills & Competencies:
• Excellent written, verbal and interpersonal communication skills
• Ability to evaluate scientific literature thoroughly and accurately
• In-depth knowledge of molecular genetics and evaluation of genetic variants in context of human diseases
• Strong organizational skills and time-management skills to meet time demands for rapid turnaround of clinical assays
• Comfortable in a fast-paced teamwork environment with ability to multi-task
• Knowledge of standard human genetic and genomic resources (e.g. OMIM, HGMD, ClinVar, UCSC Genome Browser, GeneReviews, HGVS)
• Computer literate and working knowledge of standard software applications (e.g. Microsoft Office & Teams).
Cincinnati Children's is proud to be an Equal Opportunity Employer that values and treasures Diversity, Equity, and Inclusion. We are committed to creating an environment of dignity and respect for all our employees, patients, and families (EEO/AA).
