Ion Proton Exomes

Exome enrichment, sequence data generation
and analysis

Eureka Genomics is an Ion Torrent certified service provider for exome library creation, sequence data generation and data analysis. The exome is estimated to encompass approximately 1% of the genome, yet contains approximately 85% of disease-causing mutations. Why pay to sequence the rest when the answer is likely in the exome? Read more about the Ion Torrent exome sequencing and service provided by Eureka Genomics.

Powerful exome sequencing and integrated data analysis allows you to more quickly identify disease-causing variants in rare and complex disease research.. The Ion Torrent AmpliSeq exome enrichment, sequence data generation on the Ion Proton and integrated data analysis generate high quality exome sequence data and a focused list of annotated exome variants.

Sequence data is generated via AmpliSeq exome sequencing and then processed through the Torrent Suite Software. The Torrent Suite Software has optimized variant calling parameters and provides a simple run quality report, access to coverage metrics, and full variant calling. The data moves from Torrent Suite Software to Ion Reporter workflows.

Through Ion Reporter there is 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. For researchers who want to leverage annotation information within the public domain, variant lists can be exported directly into Ingenuity®’s Variant Analysis (Data analysis options).

Exome enrichment, sequence data generation and analysis is $750 / sample with a minimum 6 sample order. Discounts apply to larger orders.

Contact EG for a quote