Applications of Next-Generation Sequencing in Inherited Disease Research

From targeted gene panels to exomes for inherited disease

Discover causal variants easily with the simple and rapid Ion Torrent sequencing workflow. Speak to one of our sequencing specialists and get a quote for the Ion Torrent sequencers.

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Inherited disease research app note

Single-gene testing by Sanger sequencing is the most cost-effective method for the study of inherited disorders with low phenotypic and genetic heterogeneity. However, as the levels of heterogeneity increase, it’s more efficient to use next-generation sequencing (NGS) panels to study multiple targets simultaneously. 

Watch our latest webinar featuring case studies from King Faisal Hospital and Mount Sinai about the application of NGS panels to uncover disease causing variants for clinical research.

The Ion Chef™ and Ion S5™ systems enable a simple, rapid and flexible targeted sequencing workflow.

Ion Reporter™ Software enables easy annotation and interpretation of relevant variants. 

* Cloud-based Ion Reporter software can be accessed by all users free-of-charge until storage exceeds 100 GB, at which time a local server will be necessary.

Ion AmpliSeq target selection technology

Whether your research is focused on a single gene or more complex inherited disorders, Ion AmpliSeq™ technology offers a solution that fits your needs. Whether you choose a focused panel or require complete exome coverage, all panels deliver exceptional coverage (>90% on-target bases) and outstanding uniformity (typically >90% bases within 20% of the mean).

Ion AmpliSeq panels for inherited disease research enable researchers to survey across sets of genes that have been scientifically curated as the most prevalent genes for containing a candidate mutation based on criteria such as phenotype and disease.  Research panels representing a wide range of inherited conditions, from cardiovascular to dermatological disease, are available.  

Should a gene panel approach fail on first pass or simply not be appropriate to your research goal, the Ion AmpliSeq™ Exome RDY Panel offers an exhaustive search option, covering typically >97% of protein coding sequence. 

Should none of these options fit your needs, customization of your own panel content using the online Ion AmpliSeq™ Designer tool is a snap.

Interested in detecting RNA expression changes?

Ion AmpliSeq RNA panels enable you to choose from over 20,000 targeted genes to survey gene expression fold changes starting with as little as 500 pg of unfixed RNA or 10 ng of formalin-fixed, paraffin-embedded (FFPE) RNA. 

Research in the field of reproductive genomics is moving at an unprecedented pace. Harness the most rapid sequencing technology to accelerate aneuploidy detection in your clinical research lab.

The Ion ReproSeq™ PGS Kit and Ion PGM™ System offer a comprehensive solution for the detection of whole-chromosome and chromosome arm events (>48 Mb) in as little as 8 hours from just 6 pg of embryonic DNA from a single cell.

Turnaround time is 8 hours with the Ion 314™ Chip for up to 2 samples, or 10 hours with the Ion 318™ Chip for up to 24 samples

Targeted sequencing workflow with the Ion S5 systems
1 Construct library
ampliseq primer pool
 
2 Prepare template
Ion Chef System
 
3 Run
sequence
Ion S5 System

Ion S5, Ion S5 XL, or Ion PGM systems

 
4 Analyze
data
Torrent Suite analysis software
 
5 Annotate results

** Only one Ion Chef System is needed to accomplish both steps 1 and 2.

Download the Ion S5 Product Selection Guide or the Ion PGM Product Selection Guide to find the complete suite of products that fit your application needs.

Key publications and application notes

Ion Torrent™ technology has been cited in more than 2,000 publications since its introduction in 2011. The following application notes and case studies highlight how you can apply the Ion Torrent NGS solution to uncover the genetic basis of inherited disorders.

Application of NGS to study inherited cardiomyopathy
Inherited disease research app note
See full publication list