NanoString Technologies launches new solution to detect CNVs in human genomic samples

NanoString Technologies, Inc., a privately held life sciences company marketing a complete solution for detecting and counting large sets of target molecules in biological samples, today announced the launch of its early access program for a unique new solution that detects copy number variation in human genomic samples. The program was announced in conjunction with the company's participation in the European Human Genetics Conference in Gothenburg, Sweden.

“Our initial results suggest that the nCounter Analysis System will provide a promising alternative for the validation and screening of CNVs.”

Copy number variations (CNVs) have become recognized as a prevalent form of structural variation in the genome contributing to genetic variability. Thousands of putative CNVs have been discovered in recent years using genome-wide technologies such as microarrays and high-throughput DNA sequencing. These genomic variations have been associated with disease susceptibility, drug response and cancer progression.

Discovery technologies for detecting CNVs can be subject to considerable false-positive rates. As a result, detected variants of interest are generally validated by real-time quantitative PCR (qPCR). This technique, however, is labor-intensive and not readily scalable for validating or screening many genomic regions at once, creating a bottleneck in the CNV analysis workflow.

The nCounter^® Custom Copy Number Variation Assays will eliminate this bottleneck by enabling researchers to perform highly multiplexed, direct digital detection and counting of CNVs in a single reaction. During the early access period, NanoString will offer CodeSets for targeting up to 200 genomic loci in a single reaction without the need for amplification or technical replicates.

Dale J. Hedges, Ph.D., Assistant Professor and Assistant Director of the Center for Genome Technology, Hussman Institute for Human Genomics, University of Miami, has been comparing the performance of the nCounter Custom Copy Number Variation Assays with traditional qPCR for validating and screening CNVs.

"We have been very impressed with the nCounter System's ease-of-use and capacity to generate results concordant with traditional qPCR, all without the added time and resources associated with that technology," said Dr. Hedges. "Our initial results suggest that the nCounter Analysis System will provide a promising alternative for the validation and screening of CNVs."

NanoString is currently accepting applications for early access use of its nCounter Custom Copy Number Variation Assays, which will become commercially available later this year.

"As a growing area of clinical interest, we are excited to add CNV analysis to the expanding portfolio of applications powered by the nCounter Analysis System," said Wayne Burns, acting CEO, NanoString Technologies, Inc. "We look forward to working closely with our early access customers to bring this powerful new solution for CNV validation and screening to the medical research community."

In addition to the new Custom Copy Number Variation Assays, NanoString also offers custom and off-the-shelf assays for gene expression and miRNA analysis.