Description
Apply genomics theory and computational methods to design, analyze, and interpret high-throughput sequencing and other genomic data for research and clinical applications. Build and maintain pipelines, databases, and algorithms for processing, annotating, and visualizing genomic information, and collaborate across teams to translate findings into actionable insights.
- • Recommend new genomics systems, pipelines, and processes to improve sequencing and analysis operations.
- • Stay current on sequencing chemistries, platforms, assays, and informatics software through literature and conferences.
- • Partner with clinical, research, product, and operations teams to plan studies and refine genomics offerings.
- • Collaborate with software and bioinformatics engineers to develop and enhance genomic analysis tools.
- • Test, benchmark, and validate new or updated genomic analysis pipelines and software.
- • Provide statistical and computational methods for variant calling, expression quantification, and functional genomics.
- • Prepare run-level and cohort-level QC and summary statistics for genomes and exomes.
- • Train scientists and clinicians on selecting and using genomic tools, databases, and workflows.
- • Improve interfaces and dashboards for genomic data portals, LIMS, and annotation resources.
- • Lead technicians and IT staff implementing WGS, WES, RNA-seq, and clinical genomics workflows.
- • Develop or customize pipelines and applications to meet project-specific genomic analysis needs.
- • Design genomic data models and build variant, sample, and metadata databases.
- • Create or modify web-based tools for genomic data query, visualization, and reporting.
- • Design and apply algorithms for alignment, variant detection, annotation, and ML-based prioritization.
- • Invent new computational approaches and analytics to address emerging genomics questions.
- • Compile and harmonize datasets for genome annotation, expression profiling, and population genetics.
- • Communicate genomics findings via reports, publications, and conference presentations.
- • Curate, query, and integrate public and proprietary genomic resources (e.g., ClinVar, gnomAD, Ensembl).
- • Consult with researchers and clinicians to define genomics questions and analytical strategies.
- • Analyze large-scale genomic datasets (WGS/WES/RNA-seq, single-cell, microarray) for research or clinical use.
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Last reviewed: Jan 2026
