Senior Bioinformaticist - Information Services - Genomics

JOB SUMMARY:

The Senior Bioinformaticist is a senior-level individual contributor responsible for helping deploy, maintain, and evolve the bioinformatics framework supporting a high-throughput, ultra-rapid turnaround whole genome sequencing clinical environment. This role focuses primarily on germline genomics pipelines, population genomics analysis, and the continuous improvement of productiongrade bioinformatics workflows.

This position will work as part of a team to build and maintain scalable bioinformatics infrastructure using modern technologies in compute infrastructure, data storage, and genomic analytics, with a strong emphasis on automation, reproducibility, and integration across systems.

In addition to maintaining clinical pipelines, this role will contribute to research and innovation initiatives, exploring new computational approaches, emerging genomic technologies, and AI/ML methods applied to genomic data.

The environment is highly cross-functional, with strong collaboration across clinicians, bioinformaticians, software engineers, and researchers, as well as partnerships with biotechnology companies, academic institutions, and national or international research programs.

MINMUM QUALIFICATIONS:

Master's Degree

Area of study in a field related to the position.

Experience analyzing next-gen sequencing data from raw sequencing output (BCL/FASTQ) through alignment, variant calling, annotation, and prioritization for whole genome or exome sequencing data.

Experience developing, maintaining, and troubleshooting automated bioinformatics pipelines supporting high-throughput genomic analysis in production or research environments.

Experience working with and understanding of NGS analysis tools like Dragen, BWA,, GATK, DeepVariant, Samtools, bcftools, Picard, Annovar, VEP, or similar tools.

Experience with Unix/Linux operating system and software development using any of Ruby, Python, Perl, Bash.

Experience working with large-scale computational environments, including HPC or distributed compute systems, and workflow orchestration tools (e.g., Nextflow, Snakemake, WDL, Cromwell, or similar frameworks). 

PREFERRED QUALIFICATIONS:

Ph.D.

Experience in CNV and SV detection tools and interpretation of complex genomic variation.

Previous experience working in a CAP/CLIA environment.

Previous experience with cloud-based development or analysis and performing benchmarking of bioinformatics tools.

Experience applying machine learning or AI approaches to genomics, phenomics, or biomedical datasets.

Experience analyzing multi-omics datasets, including RNA-seq, long-read sequencing, transcriptomics, proteomics, or related genomic technologies.

The current salary range for this position is $52.95 to $72.81

Rady Children’s Hospital is committed to compensation that is externally competitive and internally equitable. We demonstrate this commitment by conducting regular market reviews to remain competitive with organizations of similar size in the nonprofit, healthcare sector. The range listed above does not represent the full salary range for the position but is the expected hiring range for qualified candidates. Compensation decisions consider a variety of factors including experience, education, licensure, unique skillsets, organizational need, and internal equity. This posting will remain open from the “date posted” until the hiring manager has determined there is a sufficient applicant pool or until the position is filled.