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Illumina MiSeq Clinical Research

The Molecular Diagnostics laboratory has access to an Illumina MiSeq for targeted next generation sequencing of clinical trial specimens. A pipeline has been developed to obtain specimens from consented patients, isolate DNA, perform sequencing, and generate a report within 2-4 weeks. The rapid turnaround time enables real time analysis of specimens from consented patients enrolled in prospective clinical trials.

The Molecular Diagnostics Staff will work with clinical researchers to develop custom enrichment panels for sequencing specific regions of interest using the Illumina MiSeq. The MiSeq is a benchtop sequencer capable of generating upwards of 15 Gb of output in approximately 24 hours making it ideally suited for rapid turnaround of clinical research specimens. Once the custom design process is complete, initial validation studies are performed to ensure efficient target area enrichment and identify optimal sample multiplexing levels to achieve adequate coverage. In addition, a robust bioinformatics data analysis pipeline is developed to facilitate generation of a sequencing report. Upon completion of the initial validation studies, the Molecular Diagnostics laboratory will perform analysis of clinical trial specimens in real time.

Sequencing data generated by the Molecular Diagnostics Laboratory are for research purposes only. The results are NOT CLIA certified and cannot be used for standard of care treatment decisions.

If you are interested in utilizing next generation sequencing in your clinical trial, please contact the Molecular Diagnostics Staff. For sequencing of research specimens using the Illumina MiSeq please submit a request to the High Throughput Genomics Core Facility at HCI.