Computercraft is seeking a scientist with interests in human genetics and software development to organize an expansion of data submissions and services within the genetic variation working group (GVWG) at the National Center for Biotechnology Information (NCBI), a part of the US National Library of Medicine, National Institutes of Health located in Bethesda, MD.
The Genetic Variation Working Group operates public archives of genetic variation from datasets generated through biomedical research, and includes germline (or somatic) single nucleotide changes as well as large structural changes observed in any species. The GVWG organizes information on known alleles or structural variants, their population frequency characteristics, methods of discovery and validation, individual presentation in genotype and haplotype context, clinical significance, and positional or functional context with respect to annotated genomic features like genes.
This position involves extensive interaction with the research community and multiple internal project teams at NCBI to coordinate data submissions to the dbSNP database of small genetic variants, the dbVar database of larger-scale structural variants, the ClinVar database of variation clinical consequences, and the dbGaP database of genotypes and phenotypes and coordinate data exchange with NCBI's international peer archives.
The successful candidate is expected to facilitate submissions, review archive content for accurate representation, organize cross-team development projects within NCBI, and participate in the design and testing of NCBI's next generation of variation-oriented public-facing services.
The ideal candidate will have a Ph.D. that includes training in computational biology, genomics, human genetics and population genetics, excellent oral and written communication skills, strong organizational and leadership skills, experience managing cross-functional team interactions, a working knowledge of the human genome assembly framework, and knowledge of best practices for the detection, validation, and interpretation of genetic variants, genotypes and haplotypes.
This is a full-time position located onsite at the National Institutes of Health in Bethesda, Maryland.