Exome sequencing is a fast and affordable alternative to using whole genome sequencing for your research, allowing you to identify somatic and germline genetic variants within coding regions of genes without the additional expense and data analysis challenges associated with whole genome sequencing.

Whole exome sequencing

Most of the DNA sequence variants that lead to alterations in protein function are located in exons, which encompass approximately 1% of the genome. By specifically targeting exon regions, whole exome sequencing is a simple and efficient approach to identify rare mutations and help discover new biomarkers.

With the fastest run times of any benchtop next-generation sequencer, at the most affordable price, the Ion Proton Sequencer provides a simple, scalable, and affordable solution for whole exome sequencing in cancer research. Combined with the Ion Chef System for automated template preparation and the integrated Ion Reporter workflows for data analysis, the Ion Proton System is an excellent choice for biomarker discovery.

Learn more about Exome Sequencing by Ion Torrent Next-Generation Sequencing

Hereditary cancer research studies

The Ion AmpliSeq Exome RDY Kit enables a simple, fast method of exome enrichment, making it easy to use with oligo pools for ultrahigh multiplex PCR exome enrichment on a dried-down plate. Exome libraries can be produced in less than 50 minutes of hands-on time, allowing researchers to rapidly sequence key exonic regions of the genome, going from DNA to variants in just 2 days.

Tumor profiling

The Ion TargetSeq Exome Kit enables high on-target sequencing reads with uniform coverage from both archived FFPE samples and fresh-frozen tissues. Ideal for exome sequencing of tumor samples, normal/tumor pairs, and primary/metastatic tumor pairs, this easy-to-use sequencing kit enables consistent and reliable research results across multiple tissue sources.

“This system (Ion AmpliSeq Exome Solution) gives us great flexibility compared to other systems. We can take on multiple projects of various size, running just one or up to 24 samples in a week, and turn them around in just two days without the need to batch to keep our costs down. This is especially important when dealing with urgent samples requiring fast turnaround time, such as clinical research specimens.“Jeremy Stuart
Vice President of Genomic Services
Selah Genomics
Greenville, South Carolina, USA

Featured video

Next-generation RNA-Seq and Exome-Seq using the Ion Proton™ Sequencer for translational oncology research

Dr. Milan Radovich
Department of Surgery, Indiana University

Dr. Radovich presents his experience using Ion Torrent technology for whole exome sequencing in clinical research studies with a focus on the targeting of triple-negative breast cancer molecular profiles.
Duration: 26:42