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  2. Copy number analysis - Wikipedia

    en.wikipedia.org/wiki/Copy_number_analysis

    Copy number analysis is the process of analyzing data produced by a test for DNA copy number variation in an organism's sample. One application of such analysis is the detection of chromosomal copy number variation that may cause or may increase risks of various critical disorders.

  3. Copy number variation - Wikipedia

    en.wikipedia.org/wiki/Copy_number_variation

    This gene duplication has created a copy number variation. The chromosome now has two copies of this section of DNA, rather than one. Copy number variation (CNV) is a phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals. [1]

  4. Genetic analysis - Wikipedia

    en.wikipedia.org/wiki/Genetic_analysis

    Genetic analysis may be done to identify genetic/inherited disorders and also to make a differential diagnosis in certain somatic diseases such as cancer. Genetic analyses of cancer include detection of mutations, fusion genes, and DNA copy number changes. FDA microbiologist prepares DNA samples for gel electrophoresis analysis

  5. Multiplex ligation-dependent probe amplification - Wikipedia

    en.wikipedia.org/wiki/Multiplex_ligation...

    MLPA has a variety of applications [5] including detection of mutations and single nucleotide polymorphisms, [6] analysis of DNA methylation, [7] relative mRNA quantification, [8] chromosomal characterisation of cell lines and tissue samples, [9] detection of gene copy number, [10] detection of duplications and deletions in human cancer ...

  6. Comparative genomic hybridization - Wikipedia

    en.wikipedia.org/wiki/Comparative_genomic...

    Array CGH has proven to be a specific, sensitive, fast and high-throughput technique, with considerable advantages compared to other methods used for the analysis of DNA copy number changes making it more amenable to diagnostic applications. Using this method, copy number changes at a level of 5–10 kilobases of DNA sequences can be detected. [15]

  7. Human genetic variation - Wikipedia

    en.wikipedia.org/wiki/Human_genetic_variation

    Structural variations, such as copy-number variation and deletions, inversions, insertions and duplications, account for much more human genetic variation than single nucleotide diversity. This was concluded in 2007 from analysis of the diploid full sequences of the genomes of two humans: Craig Venter and James D. Watson.

  8. SNP array - Wikipedia

    en.wikipedia.org/wiki/SNP_array

    SNP arrays, however, have an additional advantage of being able to detect copy-neutral LOH (also called uniparental disomy or gene conversion). Copy-neutral LOH is a form of allelic imbalance. In copy-neutral LOH, one allele or whole chromosome from a parent is missing. This problem leads to duplication of the other parental allele.

  9. Structural variation in the human genome - Wikipedia

    en.wikipedia.org/wiki/Structural_variation_in...

    Copy number variation is a very important type of structural variation and has been studied extensively. A study on the influence of the CCL3L1 gene on HIV-1/AIDS susceptibility tested if the copy number of the CCL3L1 gene had any effect on an individual’s susceptibility to HIV-1