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.

More information on NCBI’s resources can be found at https://www.ncbi.nlm.nih.gov/guide/genetics-medicine/

Responsibilities: 

• Evaluate and process submissions to ClinVar and other resources (e.g., data describing variants, diseases/phenotypes, interpretations, literature, supporting evidence)
• Communicate with submitters to ensure accurate representation of the data
• Engage with customers by email, phone, and video conferencing and in person
• Collaborate with the team, including curatorial and technical development staff
• Engage and educate users by contributing to public documentation
• Review variant and disease/phenotype data