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 . For genetic researchers trying to identify the genes implicated in over 6,800 rare diseases , exome sequencing enables rapid, cost-effective 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 .
The Ion GeneStudio Prime System, Ion Chef instruments, and Ion 550 Chip enable up to 12 exomes per day, 48 per week.*
*Assuming an eight-hour work day and five-day work week. Requires two Ion Chef instruments.
“Speed is important for our service. But so is daily processing of exomes without batching. Ion Torrent platform offers us both.”
Dr. Sara Alvarez, Medical Director
With a workflow requiring less than 50 minutes of hands-on time, the Ion AmpliSeq Exome RDY Kit enables enrichment and library construction in less than 6 hours. The kit requires less hands-on time compared to other exome enrichment technologies (Figure 1), and as little as 50 ng of DNA can be used.
The efficiency of exome enrichment is measured by specificity, defined as the percent of on-target bases, and coverage uniformity, defined as the percent of bases covered at a certain sequencing depth. High uniformity in sequence coverage is important for exome sequencing since this minimizes the amount of sequencing needed to achieve a desired coverage threshold (e.g., 20x). Coverage depth is critical for accurate variant calling. The Ion AmpliSeq Exome RDY Kit provides high efficiency of enrichment with >90% on-target bases and >90% coverage uniformity (Figure 2).
Other bench-top sequencing platforms are not as flexible, and running a small number of samples may be costly or researchers may have to wait for large batches of samples to fill each run. With the scalable chip format of the Ion GeneStudio S5 Series, you can cost-efficiently sequence one to four exomes per run without the need to batch samples. Simply select between the Ion 540 and Ion 550 chips (whichever fits your project size). For higher throughput laboratories, sequence up to 48 exomes in a working week* using Ion Chef System, Ion GeneStudio Primer System, and Ion 550 Chip.
*Assuming a eight-hour work day and five-day work week. Requires two Ion Chef instruments.
The Ion AmpliSeq exome research solution integrates software and a bioinformatics pipeline to deliver a focused list of annotated exome variants, which helps to minimize the necessity for expensive bioinformatics resources.
Torrent Suite Software is preconfigured to support Ion AmpliSeq exome sequencing including optimized variant calling parameters, enabling you to discover relevant variants with confidence. Torrent Suite Software provides a simple run quality report, access to coverage metrics, and full variant calling—all without the need for any command line skills.
Ion Reporter Software enables data to be easily uploaded via a small, efficient file directly from Torrent Suite Software into Ion Reporter Software workflows—allowing researchers access to public annotations of called variants and simple, intuitive filters of only the most relevant variants.
For more complicated experiments, like pairs or trios, more sophisticated Ion Reporter workflows are available to find variants unique to one sample in either a pair or a trio analysis.
Find out how researchers are utilizing exome sequencing to accelerate their clinical research studies.
“With whole-exome sequencing there is less data to transfer, analyze, and interpret, which is an important consideration, and it’s more cost-effective with a faster turnaround time.”
– Dr. Christian Marshall, Research Associate, The Hospital for Sick Children, Toronto, Canada
“Ion AmpliSeq Exome RDY Kit provides the simplest exome enrichment. The dried-down primers reduce the number of pipetting steps and allow preparation of reproducible libraries that sequence with high uniformity. The straightforward workflow–similar to PCR–allows someone with little to no next-generation sequencing experience to successfully perform the protocol.”
– Richard Allcock, Director, Lotterywest State Biomedical Facility, Genomics School of Pathology and Laboratory Medicine, The University of Western Australia
The Ion Torrent Certified Service Provider program is a global network of validated service providers that enable researchers in small- and medium-sized laboratories to get high-quality exome and transcriptome sequencing data generated from small amounts of input material with very fast turnaround.
For Research Use Only. Not for use in diagnostic procedures.