Associate Staff Scientist - Clinical Variant Curator

Cincinnati Children's Hospital Medical Center • Cincinnati, OH • 4h ago

We are looking for a highly motivated individual with s 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 an MSc in Genetic Counselling 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) CLIA-Experience in a Clinical Genetics laboratory/ 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 tet results by board-certified clinical specialists, PhD genomic scientists (clinical variant curators) and genetic counselors to offer a broad range of molecular and cytogenetic 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 mainstream pediatric diagnosis by offering comprehensive next-generation sequencing technology, combined with advanced bioinformatics to provide high quality clinical results. JOB RESPONSIBILITIES

Conduct Research - 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, including OMIM, HGMD, ClinVar, and gnomAD. Review patient's clinical history, family pedigree and physician notes. Establish geno@type-pheno@type correlations and conduct pathogenicity assessment of variants by complete evaluation of gene and variant information. Design, execute and record laboratory experiments; apply standard scientific/research protocols to experiments, research and improve current methods and evaluate innovative techniques. Design and perform experiments and record data according to research protocol. Independently reproduce, evaluate, research and improve techniques currently used. Adapt new methods to existing procedures and modify current experiments through scientific knowledge and intuition. Maintain accurate and detailed records of all laboratory work and experiments. Develop, set-up and verify new procedures in the laboratory. Standardize and establish new published procedures; evaluate innovative techniques. Develop new assays and new protocols; design formats. Discuss relevant insights about experimental results with Director and provide useful recommendations and analysis. Troubleshoot and correct erroneous results or problems with laboratory equipment. Maintain and repair equipment; monitor proper use by personnel. Maintain optimal protocol and assay accuracy by conducting regular quality and reproducibility checks. Demonstrate performance at work, consistency in carrying out instructions, accuracy & attention to detail, achieving expected results & continuous improvement.

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 and 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

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