Job Description:
Sema4 Genomics is seeking a talented, self-motivated individual to contribute to cutting-edge research in translational bioinformatics and to clinical product development as a member of the Somatic Genomics group within the R&D Bioinformatics department. This position will act as a critical member of the Sema4 clinical research ecosystem focused on innovation, reliability, and quality analysis of high-throughput data at an unprecedented scale. The successful applicant will be part of an interdisciplinary team that develops computational methods, databases, and pipelines to interpret large-scale human genome and transcriptome sequencing data to understand mutations and mutation processes in cancer (and other diseases) and to translate that understanding to clinical utility. The successful applicant will also play a role in developing systems for integrating novel informatics and genomics tools and methodologies into clinical products & practices. Successful applicants will be well-versed in the art of effective communication, especially graphical communication, about large and high-complexity datasets. Responsibilities:
Additional Info:
Sema4 is a health information company founded on the idea that more information, deeper analysis, and increased engagement will improve the diagnosis, treatment, and prevention of disease. A Mount Sinai Health System venture based in Stamford, Conn., Sema4 is enabling physicians and consumers to more seamlessly engage the digital universe of data, from genome test results and clinical records to wearable sensor metrics and more. The company currently offers advanced genome-based diagnostics for reproductive health and oncology and is building predictive models of complex disease. Sema4 believes that patients should be treated as partners, and that data should be shared for the benefit of all. [Click Here to Access the Original Job Post]
Sema4 Genomics is seeking a talented, self-motivated individual to contribute to cutting-edge research in translational bioinformatics and to clinical product development as a member of the Somatic Genomics group within the R&D Bioinformatics department. This position will act as a critical member of the Sema4 clinical research ecosystem focused on innovation, reliability, and quality analysis of high-throughput data at an unprecedented scale. The successful applicant will be part of an interdisciplinary team that develops computational methods, databases, and pipelines to interpret large-scale human genome and transcriptome sequencing data to understand mutations and mutation processes in cancer (and other diseases) and to translate that understanding to clinical utility. The successful applicant will also play a role in developing systems for integrating novel informatics and genomics tools and methodologies into clinical products & practices. Successful applicants will be well-versed in the art of effective communication, especially graphical communication, about large and high-complexity datasets. Responsibilities:
- Developing, maintaining, and running bioinformatics analyses pipelines (internal and vendor-provided) for accuracy assessment and benchmarking
- Writing collaborative code for reproducible analyses
- Compiling and computing appropriate metrics (accuracy, FDR, sensitivity, etc.) for clinical product development and validation
- Creating and maintaining sample and analysis databases
- Automating existing analysis workflows, porting existing workflows to cloud platforms, and developing new pipelines within those infrastructures
- Lead data management (including sequencing results, repos and documentation) efforts for product development and genomics research
- Contributing to bioinformatics research analysis
- Maintaining documentation of pipelines and processes
- Collaborate with bioinformatics R&D scientists, product development, production bioinformatics, high-performance compute, clinical lab directors, and software development & clinical sequencing teams
- Share and present summary of results to various stakeholders
- M.S. in Bioinformatics, Biomedical Informatics, Computational Biology, or Genomics. Alternately, an M.S. in a discipline requiring strong computational and analytical skills supplemented with some biology background. Especially talented candidates with a B.S. and additional post-graduate experience will be considered.
- Benchmarking or constructing NGS pipelines.
- Strong coding proficiency in Python, SQL, and R programming languages.
- Hands-on experience working with NGS tools and data/file formats, especially GATK from Broad, short-read aligners, variant callers, RNA-Seq abundance estimation and fusion detection algorithms.
- 2 years post-graduate experience in above categories.
- Using or developing genome browsers or other tools for visualization of genomic datasets.
- Developing codebases using distributed version control tools (especially Git) and software issue tracking systems (especially JIRA).
- Deploying jobs/pipelines in a cloud platform (preferred) or a high-performance computing cluster.
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Additional Info:
Sema4 is a health information company founded on the idea that more information, deeper analysis, and increased engagement will improve the diagnosis, treatment, and prevention of disease. A Mount Sinai Health System venture based in Stamford, Conn., Sema4 is enabling physicians and consumers to more seamlessly engage the digital universe of data, from genome test results and clinical records to wearable sensor metrics and more. The company currently offers advanced genome-based diagnostics for reproductive health and oncology and is building predictive models of complex disease. Sema4 believes that patients should be treated as partners, and that data should be shared for the benefit of all. [Click Here to Access the Original Job Post]