The Bioinformatics Specialist will collaborate with the Investigator, postdoctoral fellows, and students to develop, implement, and execute computational methods and tools to assess the organization of recent segmental duplications and structural variation using next-generation Illumina, long-read single-molecule, real-time PacBio and traditional capillary sequencing technology. The successful candidate will focus on the discovery of genetic variation relevant to neurocognitive disease, autism and epilepsy and will work as part of sequencing consortia to develop methods to sequence and assemble genomes at higher quality.
This lab is involved in several different projects simultaneously, which requires skills in integrating data and systems. Familiarity with existing bioinformatics-specific software tools, especially data mining of whole-genome shotgun sequence data analysis, is required. Experience in genomics research is necessary for performance of this job. The ideal candidate will independently perform scientific investigative procedures requiring application of professional judgment, interpret experimental results, guide lab members through bioinformatics methods and analyses, and prepare reports of research for presentation or publication.
DIMENSIONS AND IMPACT TO THE UNIVERSITY
This position will work in a prominent laboratory whose work impacts other researchers worldwide. High functioning will be reflected in even greater funding opportunities and enhancement of the reputation of the University as a biomedical research powerhouse.
• Develop and maintain algorithms and computational tools to detect duplications, copy number variants, and single nucleotide polymorphisms using data generated from genome sequencing projects. (40%)
• Create tools to manage next-generation sequencing datasets using massively parallel computing infrastructure (2000+ CPUs). (20%)
• Integrate analysis data into existing MySQL-based genome browser. (20%)
• Develop programs and/or scripts, including graphical visualization software, that facilitate large-scale data mining of the genome, genetic and expression databases. (10%)
• Collaborate with postdoctoral and doctoral researchers and work independently on research projects as assigned by the Investigator. The latter will include the preparation of summaries and reports to be included in publications. (10%)
• Supervise and manage massively parallel computing infrastructure including 2,000+ CPUs, 2+ PB of shared storage, and standalone web and database servers in collaboration with departmental IT staff.
• As needed, mentor and advise junior-level programmer analysts and computational students.