Bioinformatics Core

The Bioinformatics Core at Mayo Clinic supports investigators in leveraging genomics, proteomics and metabolomics ("omics") data to diagnose or improve the treatment of patients.

The Bioinformatics Core is part of the Bioinformatics Program within the Center for Individualized Medicine and has its academic home in the Division of Biomedical Statistics and Informatics.

Today, the Bioinformatics Core includes more than 20 informatics specialists with M.S. and Ph.D. degrees in bioinformatics. The core provides bioinformatics service lines to investigators engaged in translational research and personalized medicine, delivering cutting-edge bioinformatics analytical and interpretative support to investigators.

Bioinformaticians in the core pre-process genomics, proteomics and metabolomics data and report results to investigators. They also implement and maintain the bioinformatics infrastructure needed to execute analytical work flows and manage large "omics" data sets.


  • Single nucleotide polymorphism (SNP) selection for custom genotyping panels
  • Array-based differential gene expression
  • Illumina next-generation sequencing data pre-processing, with work flows available for the characterization of:
    • Single nucleotide variations, indels, copy number variations, translocations and inversions from whole-exome and whole-genome DNA sequencing (DNA-seq)
    • Level of gene expression, splice variants and fusion genes from RNA sequencing (RNA-seq)
    • Level of microRNA expression from microRNA sequencing (miRNA-seq)
    • Methylation sites, transcription factor binding sites and chromatin modifications from methylation sequencing (methyl-seq) and ChIP sequencing (ChIP-seq)
  • Pacific Biosciences next-generation sequencing data pre-processing
  • Proteomics data pre-processing
  • Data annotation and pathways analysis
  • Assessment of internal and external genomics data sets
  • Access to genotype, gene expression and methylation data from the Gene Expression Omnibus and The Cancer Genome Atlas