Getting Started with Ion Torrent™ Exome Sequencing

What is exome sequencing?

Exome sequencing is a targeted sequencing approach that is restricted to the protein-coding regions of genomes. The exome is estimated to encompass approximately 1% of the genome, yet contains approximately 85% of disease-causing mutations [1]. For genetic researchers trying to unravel the disease-causing genes of over 6,800 rare diseases [2], exome sequencing enables the identification of common single-nucleotide variants (SNVs), copy number variations (CNVs), and small insertions or deletions (indels), as well as rare de novo mutations that may explain the heritability of Mendelian and complex disorders [3].

Ion AmpliSeq™ Exome Solution: A simple exome sequencing workflow for disease
research

What are the benefits of exome sequencing?

• Focused search for variants—almost 85% of disease-causing mutations are located in the exome
• Lower costs—exome sequencing can be performed at a fraction of the cost of whole-genome sequencing
• Simpler interpretation—exome sequencing produces much less data than whole-genome sequencing, simplifying the interpretation of results

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References

1. Choi M, Scholl UI, Ji W et al. (2009) Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A 106(45):19096–19101.
2. National Institutes of Health, Office of Rare Diseases Research.
3. Marth GT, Yu F, Indap AR et al. (2011) The functional spectrum of low-frequency coding variation. Genome Biol 12(9):R84.

Ion Reporter™ Software enables simple push-button informatics, allowing any laboratory to perform trio analysis to rapidly identify important variants from exome sequencing data.

Application Note: "Variant Filtering and Prioritization Using the Genetic Disease Screen Trio Workflow in Ion Reporter™ Software"

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Before analyzing data with Ion Reporter™ Software, generate the data using the Ion Proton™ System combined with Ion AmpliSeq™ technology for fast, high-quality exome sequencing that scales with your research needs.

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Exome sequencing brochure

Download our latest brochure, which provides a description of common exome sequencing applications and the complete Ion AmpliSeq™ Exome research workflow.

On-demand benchtop exome sequencing

The Ion AmpliSeq™ Exome research solution offers the simplest exome enrichment approach, with less than 60 minutes of hands-on time and the lowest cost per sample on a benchtop sequencer—with flexible throughput from 1 to 3 exomes per run or up to 24 exomes per week.

The Ion Proton™ System combined with Ion AmpliSeq™ technology and an integrated data analysis solution offers fast, high-quality exome sequencing that scales with your research needs.

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Ion AmpliSeq™ Exome Certified Service Provider Program

Still wondering if the Ion AmpliSeq™ Exome solution is right for you?

Try one of our Exome Certified Service Providers. It's another option for your lab to get access to high quality, fast-turnaround exome sequencing.

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