Tuesday, 2 July 2013
Incredible But True: Life Technologies introduces an amplicon-based exome sequencing kit
According to the manufacturer, the AmpliSeq™ Exome Kit minimizes the high cost and complexity of exome sequencing enabling the enrichment and sequencing of ~294,000 amplicons (!!!).
The kit targets 97% of coding regions, as described by Consensus Coding Sequences
(CCDS) annotation, in 12 primer pools for highly specific enrichment of exons within the human genome totaling ~58 Mb (it is not clear to me if the amplicons include sequences like UTRs and miRNA). The novel technology, designed for the Ion Proton platform, delivers >94% of targeted bases covered at 10x even with two exomes per Ion PI chip. Total workflow from DNA to annotated variants of an exome can be achieved in two days, including six hours for exome library preparation and three hours of sequencing time. Compared to hybridization approaches for exome sequencing, one advantage of an amplicon-based approached is that the input amount is small (as little as 50 nanograms).
Additional information can be found in this Life Technologies' Application Note.