Medical Genomics

Next-generation sequencing (NGS) is a revolutionary new technology that is advancing fields from drug development to patient care.  Indeed, sequencing output has increased by over 6 orders of magnitude over the past 15 years. Whereas a sample would yield one sequence read (“Sanger sequencing”), now billions of sequence reads per sample are possible.

Applications include:

  • Discovery of SNPs and somatic mutations, including point mutations, copy number variations, and structural variations
  • Methylation studies
  • RNA-sequencing (RNA-Seq) for gene expression studies
  • Allele-specific expression studies
  • Small RNA Sequencing
  • Amplicon Sequencing

The TRON Biomarker Development Center’s Medical Genomics unit provides best-in-class genomic profiling of DNA and RNA using innovative molecular biology and cutting-edge biotechnology.

The TRON Medical Genomics Unit provides expert next-generation sequencing (NGS), including sequencing on the Illumina HiSeq2500 and MiSeq analysis using the Galaxy framework.  The unit is experienced in using non-standard nucleic acid input material, including low input amounts, single cells, amplicons, and FFPE (formalin-fixed, paraffin embedded) DNA and RNA samples.  Assays include RNA-Seq, ChIP-Seq, whole genome, exome resequencing, small RNA and amplicon sequencing. Data are processed and analyzed through pipelines generating, for example, gene expression values and mutation identification.

Researchers provide samples, such as bulk tissue, RNA or DNA.  Each sample is prepared and sequenced according to the experimental design in question; the results are returned directly to the research group or sent to the TRON Computational Medicine department for further analysis and interpretation.  The Medical Genomics Unit uses existing lab protocols and is actively developing novel, innovative methods to further the sequencing revolution.