NanoString system detects hundreds of genetic copy variants in
single multiplexed reaction
3 Nov 2010
NanoString Technologies Inc has launched a novel solution for
detecting genetic copy number variations (CNVs) associated with disease
susceptibility, drug response and cancer progression.
The nCounter Copy Number Variation CodeSets enable researchers to
interrogate up to 800 regions of the human genome in a single
multiplexed reaction with the least hands-on time of any CNV
platform. The company launched the product at the 60th Annual
Meeting of the American Society of Human Genetics (ASHG), taking
place in Washington, D.C. this week.
Researchers previously had no simple, precise, and scalable
technology for technically replicating CNV detection or validating
CNV correlation with biological processes. The nCounter Copy Number
Variation CodeSets, built on the same innovative digital technology
underlying NanoString’s gene expression and miRNA assays, enable
researchers to perform the functional equivalent of 9,600 qPCR
reactions (800 regions across 12 samples) with only 25 minutes of
hands-on time.
“We are impressed with the initial data we generated using the
nCounter CNV CodeSets,” said Steven McCarroll, Ph.D., a professor in
the Department of Genetics at Harvard Medical School, who assisted
NanoString in validating the nCounter Copy Number Variation assays.
“We expect the system’s simplified workflow and high
multiplexing capacity will allow us to rapidly validate results from
large-scale CNV studies and provide a significant amount of
high-quality, quantitative data. The data show a linear response to
underlying copy number, with little if any saturation at higher copy
numbers. The technical reproducibility in our preliminary studies
has been excellent.”
Unlike PCR or arrays, the nCounter Analysis System does not rely
on analog signal output or amplification of target molecules.
Instead, the system utilizes a digital quantification technology
that offers superior reproducibility and generates highly accurate
data with a linear response to increasing copy numbers. These
advantages also make it possible for data generated from multiple
sites or studies to be combined for further analysis, thus
facilitating multisite studies or comparisons of old and new data
sets.
“Next-generation DNA sequencing and array-based association
studies are identifying large numbers of medically relevant CNVs,”
said Brad Gray, President and CEO of NanoString Technologies. “We
believe the nCounter CNV CodeSets will become the new gold-standard
for subsequently validating these targeted sets of CNVs, and for
effectively running larger replication studies when increased
statistical power is required.”