At GENETWORx Laboratory, we improve the health and wellness of lives around the world through dedicated research, experienced scientists, 21-st century technology, and in-depth diagnostics. Healthcare is personal and as such, the future needs to be, too. By intersecting genetic testing with personalized medicine and pharmacogenomics, we’re positioning our patients and empowering physicians with more precise, individualized, effective results.
As a leader in precision COVID-19 testing, GENETWORx provides unparalleled support, results, and clarity during these uncertain times. GENETWORx has armed healthcare providers, employers and universities with rapid and accurate COVID-19 diagnostic and antibody testing which is essential for reopening businesses and communities.
The Bioinformaticist contributes to the development of new clinical next generation sequencing tests with a focus on inherited disease sequencing and targeted assays. Will work in close collaboration with wet lab scientists to support assay development, including primer design and assay optimization. Responsible for defining and creating workflows that enable simplified analysis of data, integrating best-in-class community tools as well as developing new methods and algorithms to be deployed both locally and on cloud computing environment. The ideal candidate will be able to work in a cross functional team, translating the challenges faced by the group into bioinformatics solutions. The position requires a strong background in both statistics and algorithms development, to be able to define the appropriate statistical model or algorithmic approach for any one of a variety of challenging problems.
- Develop algorithms for analysis of multiple studies across various data types and platforms for translational research and clinical applications.
- Apply best practice statistical/computational methods to analyze large-scale biological data, such as gene expression, copy-number, mutation, methylation, next-generation sequencing, etc. in a fast-paced product development environment.
- Design, develop and maintain complex bioinformatics pipelines to support the analysis of high-throughput clinical and research data
- Analysis and interpretation of high-throughput genomic data generated by next-generation sequencing platforms
- Organize results into clear presentations (including QQ-plots, Manhattan plots) and concise summaries of work (documentation on confluence wiki), in formats useful for scientific interpretation
- Contribute to a team effort in designing, developing and deploying custom scripts to support the analysis of high-throughput data
- Maintain experience with state-of-the-art bioinformatics tools and data repositories
- Maintain detailed documentation of pipeline runs and validation/benchmarking projects, in accordance with CLIA/CAP standards
- Participate in weekly operational routines
- Independently investigate problems and develop techniques and procedures that are recognized as being difficult to solve and require the sophistication, creativity and judgement.
- Collaborate with staff on projects from inception through laboratory investigation to clinical translation.
- Contribute to projects from inception through laboratory investigation to clinical translation. When problems are encountered using standard procedures, the incumbent will apply his/her broad knowledge of clinical, translational and research pathology and apply, adapt or modify a wide range of methods and techniques to address these problems, often without having a clear precedent established for their solution.
- Provide collaborative assistance to other research scientists that require the incumbent's expertise.
- Completes other projects as assigned and/or in coordination with Lab Director.
- Degree Required: B.S./B.A. in bioinformatics
- Work Schedule: Full-time position
- Salary: Commensurate with experience
- Candidates with these desired skills will be given preferential consideration:
- Master's degree or Ph.D. in bioinformatics, biostatistics, computer science, computational biology and other related disciplines
- Experience working in a CLIA/CAP environment
- High-throughput pipeline development experience
- Strong knowledge of next generation sequencing (NGS) data analysis and interpretation, and applied computational research on large multivariate datasets
- Hands-on experience with one or more high-throughput analysis pipelines such as AmpliSeq, etc.
- Familiarity with publicly available data sources (such as dbGaP, TCGA, ENCODE, 1000 Genomes, TARGET, GTEX) and diverse genomic annotations
- Experience managing large datasets and computational tasks, experience working in a Linux environment (especially a compute cluster environment)
- Experience in the field of molecular and population genetics