Life Technologies Ion Reporter Software CNV data analysis workflow

Life Technologies Corporation has announced an 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 hybridisation - are said to have had poor dynamic range, limited breakpoint resolution, lower genomic coverage and could only detect known single nucleotide polymorphisms (SNPs).

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 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.