Stanford University Department of Genetics has an excellent opportunity available for a motivated and experienced clinical biocurator on the ClinGen project funded by the National Institutes of Health. This individual will collect and integrate data from scientific literature published by clinical and human genome research groups. They will be an essential project member interacting with national research laboratories and taking responsibility for evaluating peer-reviewed experimental research. Also this individual will be responsible for describing the biological function of gene products, the effects of genomic variants and the association with disease, using controlled vocabularies, ontologies and established guidelines. Biocurators must maintain specifications and monitor day-to-day operations of the literature searching and triage pipelines and various error-checking processes. Knowledge of variant detection, molecular mechanisms of disease, functional assays and computational analysis is needed in order to successfully define the use of these data. An understanding of bioinformatics analysis to identify variants within genomic data sets, and variant effect prediction algorithms is desirable. An advanced education in biology or medicine is required to facilitate the assessment of experimental details and to successfully evaluate quality control of novel experimental data. The successful candidate must be able to learn and work independently, yet collaborate effectively with co-workers. Previous experience working in an academic environment is a plus. Biocurators must maintain specifications and monitor day-to-day operations of the literature searching and triage pipelines and various error-checking scripts. In addition, biocurators must become experts in specialized tools that are required for data collection, analysis, and visualization. The successful candidate will define and maintain processes that evaluate and verify the accuracy of these data. Therefore, the successful candidate must understand experimental methods, data analysis methods and inferences that can be applied to both single-gene experimentation and high-throughput analyses. The successful candidate must apply judgment and evaluate the experiment data, not as a peer-reviewer, but to determine if the results reported are appropriate for the database. In addition, this individual will be responsible for describing and designing educational material for the project users. This position will work on the ClinGen project funded by the National Institutes of Health. Compliance with and support of University and government health &safety regulations & policies is required.
An advanced PhD or MD level degree in clinical medicine, genetics, molecular biology or an equivalent is required. Knowledge of genomic variation and its relationship to human disease is required. The ability to create scripts and process data via state of the art tools is desired.
- Ph.D. in Biological Sciences or MD and 2 years of experience.
- Technical expertise clinical medicine,genetics, genomics or molecular biology.
- Experience with data quality assessment.
- Excellent verbal and written communication skills.
- Knowledge of literature curation methodologies.
- Proficiency in communicating an understanding of genetics details.
- Experience in the application of ontologies for medical/biological annotation.
- Knowledge of current experimental procedures and their application in the study of medicine/biology including possible errors and boundaries of what can be described by the use oft hese methods.
- Knowledge of principals and practices of data analysis as applied to experimental results.
- Knowledgeof principles and practices of computational biological as applied to genetics/genomics.
- Experience in use of Perl or Python.
- Experience with specification of relational data models.
- Experience with phenotype ontologies.
- Experience with specification of metadata for medical/biological data.
For more information, and to apply, please go to the Stanford Careers website: