Computational-biologists/bioinformaticists in a large-scale "production" setting to deploy, maintain and evolve the bioinformatics framework for a high-throughput, ultra-rapid turnaround time wholegenome sequencing based clinical setting. Part of a team that'll build the infrastructure ground up using the latest and greatest of the technologies in infrastructure, data storage and analytics, with a strong focus on automation and integration. The environment is highly cross-functional, with a rich medical research heritage and multitude of collaborations with the biotech industry, academic institutions and federal programs.
Experience analyzing next-gen sequencing data (Illumina whole genomes or exomes): BCL to annotated variants
Experience working with and understanding of open source NGS tools like bwa, samtools, vcftools, picard, GATK, Freebayes, ANNOVAR, VEP, etc.
Experience with unix/linux operating system and software development using any of Ruby, Python, Perl, Bash
Experience working with HPC scheduling systems such as Moab, TORQUE, LSF, OpenGrid Engine, etc.
Experience in CNV and SV calling
Previous experience working in a CAP/CLIA environment
Previous experience with cloud-based development or analysis and performing benchmarking of bioinformatics tools