Bioinformatics is a rapidly evolving field. Below are commonly requested services provided by the Bioinformatics Core at Mayo Clinic.

Next-generation sequencing data processing, with in-house developed software is available for:

  • DNA sequencing (DNASeq): targeted panels, whole-exome sequencing (WES or WXS), whole-genome sequencing (WGS)
  • RNA sequencing (RNASeq): Messenger RNA sequencing (mRNAseq), single-cell RNA sequencing (scRNAseq), microRNA sequencing (microRNAseq), long noncoding RNA sequencing (lncRNAseq)
  • Epigenomics: Methylation sequencing (Methylseq), chromatin immunoprecipitation sequencing (ChIPseq), assay for transposase-accessible chromatin sequencing (ATAC-seq) and Hi-C
  • Proteomics: Mass cytometry by the time of flight (CyTOF) and mass spectrometry (MS)
  • Metabolomics
  • Lipidomics
  • Spatial omics
  • Microbiome
  • Long reads (PacBio and Nanopore)

Analyses regularly performed:

  • Sample QC and batch correction
  • Single nucleotide variants (SNVs), insertions and deletions (INDELs), copy number variants (CNVs), and structural variants (SVs)
  • Expressed variants, gene fusions, alternative splicing and gene expression
  • Gene set enrichment and pathways
  • Noncoding RNAs
  • Deconvoluting cell types
  • Virus and bacteria
  • Identifying differentiating elements
  • Building machine learning models for multi-omics integration

Other support routinely provided:

  • Annotating omics data sets
  • Retrieving public omics data sets
    • The Cancer Genome Atlas (TCGA), International Cancer Genome Consortium (ICGC), Genotype-Tissue Expression (GTEx) project, UK Biobank, Trans-Omics for Precision Medicine (TOPMed), Gene Expression Omnibus (GEO)
  • Consulting on analytical study design
  • Assist in the writing and reviewing of manuscripts and grants