Mayo Clinic investigators may request services by completing the request form on the Genotyping Core intranet site. A formal proposal is generated for each project that includes goals, estimated costs and data delivery date. Investigators at other institutions who are interested in core services should begin by contacting the core.

Informal cost estimates can be provided by email, but all projects must have formal proposals signed before work may begin.

Genome-wide single nucleotide polymorphism (SNP) arrays

The Genotyping Core has extensive experience in handling large projects of this type. Illumina genotyping arrays, from the HumanOmniExpress to the Omni5, are available. Custom content may be added to some of the arrays.

Targeted panels for projects other than genome-wide association studies also are available, including arrays for:

  • Illumina HumanExome and HumanCore
  • GoldenGate Cancer SNP
  • Bovine, canine, ovine, porcine and maize

These arrays are scanned using Illumina high-definition iScan instruments. In addition, VeraCode ADME arrays are available and scanned on Illumina's VeraCode instrument.

Custom SNP genotyping

Custom SNP genotyping for projects both large and small is available.

  • TaqMan assays on the Applied Biosystems 7900
  • Illumina iSelect, GoldenGate and VeraCode multiplexed assays on the Illumina iScan
  • Pyrosequencing on the QIAGEN PyroMark MD
  • Fluidigm (BioMark EP1)

Methylation analyses

There are more than 28 million CpG loci in the human genome. The Genotyping Core offers several options, all of which use bisulfite-modified DNA:

  • Reduced representational bisulfite sequencing (RRBS) on the Illumina HiSeq
  • Illumina HumanMethylation450 array on the Illumina iScan
  • Pyrosequencing on the QIAGEN PyroMark MD

These methods provide quantitative, single-nucleotide-level assessment of CpG loci methylation either across the genome (RRBS and HumanMethylation450) or in focused regions (Pyrosequencing). The core also performs bisulfite modification of DNA in support of these services.

Repeat length polymorphisms

Repeat length polymorphisms are assayed using an Applied Biosystems 3700 DNA sequencer.