Copy number in the Event Feedback

Aug 6th, 2022
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How to copy number in the Event Feedback

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foreign presenting to you a few different examples of how we can use Nexus copy number in sort of a case review format before we begin I just want to give a very brief overview this is a typical workflow that you would use for copy number analysis with Nexus first you would take your raw data for pre-processing array platform this includes appymetrics Agilent alumina and also we can get copy number information from your exome or genome sequencing data from here this raw data is interpreted we get the log ratio value and then the segmentation to determine the copy number changes at this point we can also integrate the co-visualization of any sequence variation you may have from XM sequencing genome sequencing or targeted sequencing at this point were going to identify regions of change genes within those regions and possibly some functional information at the level of the regions or genes that are altered we can also query for uh clear these aberrations for anything of Interest we can

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Copy number alterations (CNAs) are somatic changes to chromosome structure that result in gain or loss in copies of sections of DNA, and are prevalent in many types of cancer (2). Mutation of certain genes has a broad impact across a variety of cancers.
Copy number signatures (CN Signatures) are the latest addition to COSMIC Mutational Signatures, a reference database of characteristic combinations of mutation types arising from specific mutagenesis processes.
Complex combination of Down syndrome phenotype could be produced by partially copy number variations (CNVs) on chromosome 21 as well.
noun. : a numeral placed on a book to distinguish it from other copies of the same title.
Copy number variation, CNV. Changes in the number of copies of small sections of our genomes can have big consequences. One interesting example is a gene called amylase. This gene is important for digesting starchy foods like potatoes or grains.
Copy number variation (CNV) disorders arise from the dosage imbalance of one or more gene(s), resulting from deletions, duplications or other genomic rearrangements that lead to the loss or gain of genetic material.
The CNV is simply given by the ratio of the estimated concentration of the target gene to the estimated concentration of the reference gene. Both of these concentrations are estimated by applying the Poisson law as explained in the item Poisson Law Computation.
Intra-tumour heterogeneity is a mechanism of therapeutic resistance and therefore an important clinical challenge. However, the tumour-related copy number variants (CNVs), as key regulators of cancer origination, development, and progression, across various types of cancers are poorly understood.
One of the most well known examples of a short copy number variation is the trinucleotide repeat of the CAG base pairs in the huntingtin gene responsible for the neurological disorder Huntingtons disease.
CNL denotes the decreased gene (or sequence fragment) copies in the genome while CNG denotes the gain of additional gene copies in the human genome.

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