DNA sequencing equipment

Medical Genome Facility

The Center for Individualized Medicine's Medical Genome Facility works closely with the Biorepositories Program by bringing together genomics-oriented shared resources to provide professional, efficient and low-cost access to the latest genomics technologies for all Mayo Clinic investigators.

The facility also assists researchers and clinicians in interpreting genomic findings and applying them to patient care. This is done in collaboration with the Department of Laboratory Medicine and Pathology, and with support and cooperation among the Center for Individualized Medicine, Mayo Clinic Research Administration and the Mayo Clinic Cancer Center.

Services offered by the Medical Genome Facility include:

Areas of focus

Increasing capacity

The Medical Genome Facility continues to expand its technical capabilities and staff to meet investigators' needs within the Center for Individualized Medicine and across Mayo Clinic. This includes acquiring cutting-edge sequencing equipment, hiring talented technical staff to meet these demands, and adding bioinformatics and information technology specialists. This collaboration led to the generation of more than 390 terabases of nucleotide sequences in 2020 alone.

Consulting and advising

Investigators are encouraged to meet with Medical Genome Facility staff members to discuss project goals before any experiments or clinical studies commence. Bioinformatics staff members will join the consultation, if needed, to ensure all questions from sample collection to data analysis are addressed. Such collaborative, coordinated study design is essential for individualized medicine projects, particularly because genomic technologies are ever-changing and a single study may require services from multiple Medical Genome Facility cores.

One of the studies the facility supports is the Clonal Hematopoiesis of Indeterminate Potential (CHIP) study. Both scientific and operational experts from the Medical Genome Facility are part of the project team to ensure that sample transfer, processing and data generation meet the needs of this study and many others.

Developing new laboratory methodologies

The Medical Genome Facility has several research technologists who develop and refine new service lines.

Active developmental projects include:

  • Utilizing PacBio single-molecule sequencing technology for clinical applications. Taking advantage of the long-read length of the PacBio platform, facility staff members are studying critical gene mutation screening, immunoglobulin gene rearrangement, mitochondria genome analyses, and the ability to detect medically relevant structural variations. This also includes CRISPR-based "NoAmp" sequencing protocols to permit interrogation of selected regions of the genome for specific sequence variations without PCR.
  • Developing methods to detect 5 hydroxymethylcytosine (5hmC). DNA methylation is a dynamic state and 5hmC is an intermediary in the demethylation of methylated cytosines, thus allowing analysis of the effects of environmental factors on disease and changes in disease states themselves.
  • In situ detection of gene expression. To assess tumor heterogeneity, the Cytogenetics Core is working to develop a robust method to allow in situ evaluation of mRNA expression using chromogenic stains.
  • Proteomics development. Working to complete a principal development of a liquid chromatography-tandem mass spectrometry (LC/MS/MS)-based assay for the protein myostatin and its inhibitors.

Program leader

The Science Behind the Sequence

Eric D. Wieben, Ph.D., director, Medical Genome Facility

Genome Sequencing

Genomic sequencing is a process for analyzing a sample of DNA taken from your blood. In the lab, technicians extract DNA and prepare it for sequencing.