Computercraft seeks a highly motivated individual who will use his or her expertise in human genetics to support NCBI’s Medical Genetics and Human Variation Program and associated resources such as ClinVar, MedGen, and the NIH GTR. More information on NCBI’s resources can be found at https://www.ncbi.nlm.nih.gov/guide/genetics-medicine/
This is an exciting opportunity to improve resources and contribute to data sharing efforts in the medical genetics community. The successful candidate will work on-site at the National Institutes of Health, National Center for Biotechnology Information (NCBI) in Bethesda, Maryland.
Evaluate and process submissions to ClinVar and other resources which include data describing variants, diseases/phenotypes, interpretations, literature and supporting evidence
Communicate with submitters to ensure accurate representation of the data
Engage with customers over email, phone, video conferencing, and in-person
Collaborate with team, including curatorial and technical development staff
Engage and educate users by contributing to public documentation
Review variant and disease/phenotype data
Ph.D. in human genetics with board certification in clinical or molecular genetics or M.S. in genetic counseling with ABGC or CBGC certification
Strong logic, problem-solving, and organizational skills
Excellent verbal and written communication skills
Excellent general computing skills, including familiarity with spreadsheets
Ability to work both independently and as part oPh.D. in human genetics with board certification in clinical or molecular genetics or M.S. in genetic counseling with ABGC or CBGC certificationf a team
Ability to balance multiple tasks in a fast-paced and dynamic environment
Ability to adhere to established procedures
A detail-oriented perspective
A strong desire to support public scientific databases such as ClinVar
Avid interest in genetic conditions and associated genomic causes
2+ years of experience with human variant interpretation in a clinical setting, either performing interpretation in a clinical testing laboratory or delivering interpretation results to patients
Comprehension of genetic condition phenotypes and familiarity with disease and phenotype databases
Understanding of current ‘state of affairs’ in the medical genetics community, including customer roles and needs from the clinic, to testing laboratories, etc.
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.
Computercraft is an equal opportunity employer.
Internal Number: MGC0418
About Computercraft Corporation
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.