Life Technologies Launches Industry's First End-to-End Sequencing Solution for Human Exome Copy Number Variation Analysis
02 Sep 2013

Life Technologies Corporation today announced the first end-to-end sequencing solution for exon-level copy number variation (CNV) analysis, which combines the Ion Reporter™ CNV data analysis workflow, the Ion AmpliSeq™ Exome Kit and the Ion Proton® System.

Inherited and de novo CNVs of chromosomal regions, in which large regions ( > 1 kb of the genome) are duplicated or deleted, are associated with many diseases, including cancer, autism, and schizophrenia. Until now, the primary CNV analysis methods—microarrays and fluorescence in situ hybridization—have had poor dynamic range, limited breakpoint resolution, lower genomic coverage, and can only detect known single nucleotide polymorphisms (SNPs).

"The launch of the industry's first solution for whole human exome CNV analysis using Ion AmpliSeq™ Exome is another example of how Ion Torrent is delivering turnkey solutions to enable sequencing for all," said Ion Torrent's Vice President of Marketing, Maneesh Jain. "The Ion AmpliSeq™ Exome Kit and Ion Reporter™ Software provide an integrated solution for detecting SNPs, indels and high-resolution copy number variation."

The Ion Reporter™ Software CNV data analysis workflow vastly simplifies and automates all of the steps for a priori identification and interpretation of CNVs, SNPs, and indels so virtually anyone can quickly understand the implications of their exome data with the same sensitivity as microarray data. Simply choose the predefined Ion Reporter™ Software CNV data analysis workflow, run the sample and receive a list of mutations, including copy number variants ranging in size from exon level up to aneuploidies, and associated annotations drawn from dozens of public databases—all in a single day.

The Ion AmpliSeq™ Exome Kit and Ion Proton® Sequencer are For Research Use Only. Not for use in diagnostic procedures.

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