This position with the Next-Generation Sequencing Informatics (NGSI) group requires a Bioinformatics Programmer with Linux/Unix command line and coding experience. As the HGSC's Bioinformatics Core, NGSI manages the production, maintenance, and primary analysis of all genome sequencing data at the HGSC, including Illumina HiSeq X and NovaSeq informatics. NGSI also contributes to multiple clinical, Mendelian, and large cohort sequencing studies, specifically in the areas of structural variation and at-scale genomic data science. Under the direction of a senior manager, a qualified candidate will assist with running research informatics pipelines, managing data storage and delivery, and troubleshooting routine production issues.
- Manage the generation, storage and delivery of large-sample genomic datasets
- Develop, test and deploy at-scale analysis protocols
- Deliver QC'ed data to public repositories and collaborators
- Maintain extensive project-specific documentation and best practices
- Support day-to-day NGSI production pipelines
- Participate in calls and meetings with collaborators
- Identify novel ways to improve data quality and analysis
- Provide excellent customer service to other HGSC groups and outside collaborators through ticketing systems
- Education Required: Bachelor's degree in Computer Science, Biological Science, or a related field.
- Experience Required: None Required.
- Certification/Licenses/Registration: None Required.
- Education Preferred: Master’s degree in a related field.
- Expert proficiency in Unix environments
- Proficiency in scripting and automation language (e.g., python, bash)
- Next-Gen Sequencing analysis tools (e.g., BWA, vcftools, BEDtools, bamUtils, SAMtools, Picard)
- Common genomics data formats in genomics (e.g., FASTQ, BAM, VCF)
- High-level ability to manage multiple tasks and overlapping deadlines
- Demonstrated exceptional written and verbal communication skills