Sema4 is a patient-centered health intelligence company founded on the idea that more information, deeper analysis, and increased engagement will improve the diagnosis, treatment, and prevention of disease. Sema4 is dedicated to transforming healthcare by building dynamic models of human health and defining optimal, individualized health trajectories, starting in the areas of reproductive health and oncology. Centrellis™, our innovative health intelligence platform, is enabling us to generate a more complete understanding of disease and wellness and to provide science-driven solutions to the most pressing medical needs. Sema4 believes that patients should be treated as partners, and that data should be shared for the benefit of all. Sema4 is seeking a talented, self-motivated Bioinformatics Scientist to lead cutting-edge basic and translational bioinformatics research as a member of the R&D Bioinformatics department, as well as contribute to clinical product development. You will collaborate with physician-scientists and innovative technology development labs to shed new light on disease mechanisms in various neoplasms by integrating data from novel genomic and transcriptomic assays. You will be part of an interdisciplinary team that develops wet lab assays, computational methods, pipelines, and databases to interpret large-scale human genome and transcriptome data and translate that understanding to clinical utility. You will publish the innovative results of your work to show the world how Sema4 differentiates in science and technology. RESPONSIBILITIES Lead or support bioinformatics projects to translate NGS results, as well as public and internal genomic, phenotype, and clinical/EMR datasets, to novel discoveries on a path to clinical utility. Design, develop, and test components of clinical NGS pipelines for oncology and reproductive health clinical tests. Analyze and integrate heterogeneous NGS data (somatic and germline SNVs, indel variants, copy-number alterations, structural variants, gene fusions, transcript isoforms, RNA abundance, RNA editing and modification) from diverse next-generation sequencing assays (Illumina, Ion Torrent, Pacific Biosciences; targeted panels, whole-exome sequencing, whole-genome sequencing, RNA-Seq; bulk and single-cell) and microarrays. Work with wet labs to plan and design experiments to generate such data. Contribute to development of infrastructure for integrating data from multiple NGS technologies, as well as variant annotation and interpretation. Publish and present novel findings in academic journals and conferences. QUALIFICATIONS PhD in Bioinformatics, Biomedical Informatics, Computational Biology, Genomics, or a related discipline requiring strong computational and analytical skills supplemented with biology background Minimum 2 years relevant post-graduate experience. Well-versed in the art of effective communication on interdisciplinary teams (scientists, programmers, and clinicians), especially graphical communication about high-complexity datasets to scientific audiences from different backgrounds. Strong coding proficiency in Python, SQL, and R programming languages in a Linux environment. Hands-on experience working with NGS tools (including for sequence analysis and expression analysis) with high proficiency. High self-motivation, great ability to work in both multiple-task and independent fashions. Using or developing genome browsers or other tools for visualization of genomic datasets. Good understanding of molecular, cell, and developmental biology, especially where relevant to cancer genomics, oncology, or endocrine neoplasms, and especially molecular cloning and NGS library preparation methodologies. Developing code using distributed version control tools (especially Git) and software issue tracking/management systems (especially Jira). Experience working with cloud computing infrastructures will be a plus, especially on Amazon AWS.
