Easy exome sequencing

Harness the power of the Ion AmpliSeq™ Exome solution to identify relevant variants in your research

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Exome sequencing case study

Recent advancements in rapid and low-cost exome sequencing make it an attractive alternative to traditional targeted gene panel sequencing for clinical research, while maintaining the possibility of discovering mutations in genes previously not associated with a disorder.

Researchers are now using proband-father-mother (trio) exome sequencing to uncover variants that may potentially either cause or modify the condition under study. Download this latest case study to learn more.

Dr. Christian Marshall of The Hospital for Sick Children, Toronto, Canada, uses exome sequencing that may unravel novel variants in autism and other pediatric diseases.

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Exome sequencing webinar series

Sign up for our recorded webinars to see how labs of all sizes have achieved high-quality exome sequencing and identified disease-causing variants in their research using the Ion AmpliSeq™ Exome solution.

Jeremy Stuart, VP at Selah Genomics, presents how his lab uses the Ion AmpliSeq™ Exome solution for molecular analysis of cancer research samples.

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Dr. Vince Funari, Director of the Genomics Core at Cedars-Sinai Medical Center, discusses how he is using the Ion AmpliSeq™ Exome solution to identify casual variants in his research.

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Dr. Andy Peek and Adam Pond of SeqWright Genomic Services, GE Healthcare, discuss the results of their studies using the Ion AmpliSeq™ Exome solution in their search for relevant variants.

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Learn more about the Ion AmpliSeq™ Exome solution >

Exome sequencing overview

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].

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

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Exome sequencing application note

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 getting started

Exome sequencing brochure

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

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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.