Postdoctoral Research Associate - Clinical Variant Curator
Cincinnati Children's Hospital Medical Center
Location: Cincinnati, Ohio
Academic / Research
Internal Number: 134215
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. 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-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.
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 feedbacks on existing pipelines, databases, as well as commercial pipelines/tools, thus 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.
Ph.D. or equivalent degree in genetics, molecular genetics, molecular biology, or relevant disciplines.
At least 3 years of related experience in relevant fields
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
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).
About Cincinnati Children's Hospital Medical Center
At Cincinnati Children’s, we come to work with one goal: to make children’s health better. We believe in a team approach, both in caring for patients and their families, and in advancing science and discovery. We strive to do better, and find energy and inspiration in our shared purpose. If you want to be the best you can be, you can do it at Cincinnati Children’s.