JOB SUMMARY: Collects and curates data from scientific literature published by clinical and human genetics research.
MAJOR RESPONSIBILITIES: • Describes the biological function of gene products, the effects of genomic variants and the association with disease, using clinical vocabularies, ontologies and established guidelines. • Maintains specifications and monitor day-to-day operations of the literature searching and triage pipelines and various error-checking processes. • Works with genetic counselors and laboratory directors on single-gene experimentation and high-throughput genetic testing. • Provides accurate classification on genetic variants associated with human diseases based on guidelines. • Applies judgment and evaluates the experiment data for accuracy. • Performs other duties as required.
JOB QUALIFICATIONS: An advanced PhD or MD level degree in clinical medicine, genetics, molecular biology or an equivalent is required. The successful candidate must be able to learn and work independently, yet collaborate effectively with co-workers.
• Knowledge of variant detection, molecular mechanisms of disease, functional assays and computational analysis. • Knowledge of genomic variation and its relationship to human disease. • Technical expertise in 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 principals and practices of data analysis as applied to experimental results.
DESIRED: • An understanding of bioinformatics analysis to identify variants within genomic data sets, and variant effect prediction algorithms. • Experience in use of Perl or Python. • Experience with structural biology. • The ability to create scripts and process data. • Previous experience working in a clinical laboratory environment.
Internal Number: 1270
About Baylor Miraca Genetics Laboratories, LLC
For nearly 40 years, Baylor Genetics has been the leading pioneer in genetic testing. Currently, we offer a full spectrum of cost-effective, genetic testing and provide clinically relevant solutions. Our team’s unmatched knowledge and experience deliver a combination of advanced technology and deep patient data sets that lead to more accurate interpretations. The Baylor Genetics team consists of PhDs and genetic counselors who have been featured in prominent journals, such as JAMA, Science, and Nature. In addition to our team, Baylor Genetics is complemented with the staff, medical geneticists, faculty, genetic counselors, and researchers at Baylor College of Medicine. Through these combined efforts, we are able to drive new discoveries in research and testing.