Life Technologies Ion AmpliSeq Exome Kit

Life Technologies’ Ion AmpliSeq Exome Kit delivers very good exome sequencing performance, with up to 98% of bases covered at 10x, and up to 96% of bases covered at 20x, for a single exome. With a workflow requiring less than 60 min of hands-on time, the product enables exome enrichment and library construction in less than 6 h and requires as little as 50 ng of input DNA.

The kit allows researchers to sequence single exomes, pairs or trios in a one sequencing run, going from DNA to data in just two days. The Ion Proton Sequencer and Ion PI Chip sequence up to 24 exomes in a week, and the upcoming Ion PII Chip is expected to sequence up to 96 exomes in a week.

Ion Torrent has automated all of the steps for identifying and interpreting mutations, so virtually anyone can quickly understand the implications of their exome data. Simply choose a predefined Ion Reporter exome data analysis workflow, run the sample and within hours receive a list of mutations and associated annotations drawn from dozens of public databases.

The product focuses on the exonic regions of the genome that code for proteins. About 85% of the genetic variants that drive human disease come from these regions, yet they account for just 1% of the genome, making it a suitable approach for human disease research. Exome sequencing generates 100x fewer variants than whole genome sequencing, yielding a focused and actionable set of variants for follow-up.