How do you identify copy number variations?
In NGS, millions of single end or mate pair reads are generated from the sample genomes with shotgun sequencing. CNVs are then detected based on the frequency of the reads (read depth) or aberrations in the mate pairs, after mapping the short reads to the reference genome.
Is TaqMan specific?
Applied Biosystems™ TaqMan® real-time PCR assays consist of target-specific primers and one or more probes optimized for specific types of measurements.
What Causes copy number variation?
Copy number variations appear to be higher in brain cells than in other cell types. A likely source of copy number variation is incorrect repair of DNA damage. Genomic duplication and triplication of the gene appear to be a rare cause of Parkinson’s disease, although more common than point mutations.
What is assay ID?
The assay ID is a unique identifier for each assay designed either as part of Thermo Fisher Scientific’s comprehensive collection of pre-designed assays or as a custom assay using one of our custom assay design tools.
What is quencher in PCR?
The quencher molecule quenches the fluorescence emitted by the fluorophore when excited by the cycler’s light source via Förster resonance energy transfer (FRET). As long as the fluorophore and the quencher are in proximity, quenching inhibits any fluorescence signals.
How do I find my copy number?
dsDNA copy number calculator. This calculation is based on the assumption that the average weight of a base pair (bp) is 650 Daltons. This means that one mole of a bp weighs 650 g and that the molecular weight of any double stranded DNA template can be estimated by taking the product of its length (in bp) and 650.
What is TaqMan gene expression assay?
Applied Biosystems TaqMan Gene Expression assays are used for quantitative real-time PCR analysis of gene expression and consist of a pair of unlabeled PCR primers and a TaqMan probe with a dye label (FAM) on the 5′ end and a minor groove binder (MGB) and non-fluorescent quencher (NFQ) on the 3′ end.
How to study copy number variation using TaqMan?
As the simplest method available to study copy number variation, TaqMan Copy Number Assays feature easy assay ordering and a simple workflow to enable quick results. Use our Search Tool below to find the single tube assays you need. Both custom assay options allow you to submit a target sequence to our TaqMan Assay design pipeline.
How does the TaqMan DNA copy number assay work?
Applied Biosystems TaqMan Copy Number Assays use gold-standard TaqMan MGB probe chemistry to evaluate the copy number of genomic DNA targets using Applied Biosystems real-time PCR instruments and software.
How are copy number assays used in medicine?
Applied Biosystems™TaqMan™Copy Number Assays are designed to detect and measure copy number variation within the human and mouse genomes. Copy number variation is an important polymorphism associated with genetic diseases such as cancer, immune diseases, and neurological disorders.
How many gene exon assays are there in the world?
The human assay collection includes over 1.6 million assays targeting gene exons and introns, extragenic regions, and CNV sequences from the Database of Genomic Variants (DGV). The mouse collection includes over 180,000 assays targeting gene exons.