Bioinformatics Software Engineer
JIMB is seeking a bioinformatics professional to create the next generation of Genome in a Bottle Consortium (GIAB) reference materials. GIAB is creating the best-characterized human genomes as authoritative references and benchmarks for scientific, technology-development, regulatory, and clinical applications. Join us to invent and deploy the best latest technologies and most-advanced methods!
The first 7 human genome reference samples from GIAB have been characterized with more than 12 technologies. Our current methods have let us form high-confidence small variant calls in 88-90% of the genome, but these methods require expert knowledge and curation and are not able to characterize more challenging variants or regions of the genome. We’re going to use new methods for benchmarking from the Global Alliance for Genomics and Health Benchmarking Team to refine our tools and make them more scalable as we extend to new genomes, new (more difficult) variant types, and more challenging regions of the genome.
This position is critical to the success of our near-term work plans, which include:
- developing an online repository for data from reference samples
- developing cancer sequencing benchmarking materials
- high-confidence characterization of genomes with somatic mutations
- applying synthetic spike-in DNA to benchmarking and validation
- developing benchmarking assets for clinically interesting mutations
- HLA characterization
- benchmarking tool development
JIMB enthusiastically invites applications especially from recent graduates, women, and members of underrepresented groups. Ideal applicants will have a mix of expertise in analyzing and using genomics data; experience with machine learning methods; strong coding skills; be agile with unix, command-line bioinformatics tools, and scripting; experience developing software tools used by others (e.g., tools on GitHub).
Complete applications should be emailed to jobsatjimb [at] gmail.com and must include a cover letter, resume and a list of references.