Copy Number Analysis

Accurate, high-resolution DNA and RNA copy number analysis using cutting-edge technologies.

ACGT offers diverse technologies, including NGS, qPCR- and ddPCR-based relative and absolute quantification, to support all your target copy number analysis needs.

Determining number of copies of a DNA or RNA target is a valuable tool in a number of research applications:

Copy Number Variations (CNVs)

Genomic alterations that result in abnormal copies of one or more genes. Can be caused by structural genomic events such as duplications, deletions, translocations and inversions. Like SNPs, CNVs have been associated with cancer, autoimmune diseases and inherited genetic disorders.

Loss of Heterozygosity (LOH)

LOH is a deletion of one copy of genetic information from a cell’s genome; a common genetic event in the development of cancer. In certain tumor types, LOH can affect more than 20% of the genome, resulting in a loss of allelic variation in thousands of genes.

Gene Expression

Gene expression analysis determines RNA expression levels and is a tool to identify the molecular basis of observed phenotypic differences. Differential gene expression (DGE) analysis is a common application of RNA data analysis and allows for the clarification of differentially expressed genes across two or more conditions.

Services

See how ACGT bioinformatics can complete your research goals.

Short and Long Read NGS

ACGT’s short-read and long read NGS technology can be used to evaluate copy number variations in genomes of various size. Analysis can be accomplished one or more of the primary bioinformatics methods of detecting CNVs with NGS data. We also offer a low-pass (skimming) genome sequencing as a cost-effective alternative to detect large-scale CNVs.

For RNA-based analysis, we offer cost-effective Differential Gene Expression service, based on 3’ region of poly-adenylated transcripts, as well as full transcriptome analysis services using either short-read or long-read full length transcript sequencing.

MGB (TaqMan) Copy Number Analysis

TaqMan assays are used to detect and quantify specific targets either as relative quantification (as a fraction of the level of a normalizer target), or as absolute quantification. The latter can be offered based on a target dose-response curve calculations, or directly using digital PCR. Millions of copy number and gene expression targets are available from Thermo Fisher Scientific, including human, mouse and many other mammalian species, plants, microorganisms, and viruses.

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