title: CNV analysis using TaqMan copy number assays.
abstract: Copy number variations are important polymorphisms that can influence the expression of genes within and close to the rearranged region. This allows transcription levels to be higher or lower than those that can be achieved by control of transcription of a single copy. Recently, copy number variations have been associated with genetic diseases such as cancer, immune diseases, and neurological disorders. TaqMan copy number assays are designed to detect and measure copy number variation in the human genome using real-time polymerase chain reaction and unquenching of fluorescent probes for the target sequence.
authors.affiliation: Center for Human Genetic Research, Vanderbilt University, Nashville, Tennessee, USA.
authors.forename: Ping
authors.initials: P
authors.lastname: Mayo
authors.forename: Toinette
authors.initials: T
authors.lastname: Hartshorne
authors.forename: Kelly
authors.initials: K
authors.lastname: Li
authors.forename: Chara
authors.initials: C
authors.lastname: McMunn-Gibson
authors.forename: Kylee
authors.initials: K
authors.lastname: Spencer
authors.forename: Nathalie
authors.initials: N
authors.lastname: Schnetz-Boutaud
mesh_terms: D056915:DNA Copy Number Variations; D015894:Genome, Human; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods*; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide