A patient presents with a cluster of clinical features that may have a genetic cause. The clinician accesses a suite of freely available, comprehensive, and authoritative online resources for genetic disease information to find answers. Navigating these integrated sources with ease and efficiency, she investigates potential genetic conditions associated with her patient’s clinical features, identifies reliable genetic tests she can order to make a diagnosis, and researches the genetic variants associated with the conditions. She also locates other actionable information, such as clinical guidelines, therapeutic approaches, and support for consumers. Her go-to resources have once again saved her hours of research and guesswork and helped her provide the best care for her patient.
These National Center for Biotechnology Information (NCBI) resources—ClinVar, MedGen, and the Genetic Testing Registry—aggregate data submitted by clinical laboratories and others worldwide, integrated from other authoritative sources through automated workflows, and curated by a team of staff. Together, they are changing the way clinicians investigate, diagnose, and manage inherited conditions. Computercraft is seeking a new member of the team to work on site at NCBI, National Institutes of Health, in Bethesda, Maryland, who will use his or her expertise in human genetics to advance these NCBI resources and NCBI’s Medical Genetics and Human Variation Program and contribute to data-sharing efforts for clinicians and researchers in the medical genetics community. The position will initially focus on ClinVar but is expected to broaden over time to address MedGen and the Genetic Testing Registry.
Additional Salary Information: Computercraft offers a competitive salary, excellent benefits package, the opportunity for excellent work-life balance with a standard 40-hour work week, and the chance to work with accomplished scientists at NIH/NCBI.
Internal Number: MGC0418
Since 1981, Computercraft has been working with the United States government on innovative health information and life science projects. We are staffed with highly trained scientists, IT experts, and other technicians, and we have the name and the knowhow to hire additional experts quickly to meet your needs. Working together with federal agencies, our scientists and IT experts have assumed a wide range of responsibilities in developing and maintaining key scientific resources such as GenBank, RefSeq, and PubMed. Computercraft scientists and IT experts not only are involved in the development, curation, and maintenance of several bioinformatics resources, but also assist in mining and analyzing bioinformatics data.