Copy number in the Peer Review Report

Aug 6th, 2022
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One of the most well-known examples of a disease-causing CNV is Huntington disease, which is caused by a repeating sequence of three base pairs (known as a trinucleotide repeat) at the end of the coding region of the HTT gene.
CNVs are divided into two major groups: copy number loss (CNL) and copy number gain (CNG). 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. Concordance of copy number loss and down-regulation of tumor nih.gov articles PMC5001246 nih.gov articles PMC5001246
Copy number variations can be generally categorized into two main groups: short repeats and long repeats. However, there are no clear boundaries between the two groups and the classification depends on the nature of the loci of interest.
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.
noun. : a numeral placed on a book to distinguish it from other copies of the same title.
Copy number variation (CNV) is a general term used to describe a molecular phenomenon in which sequences of the genome are repeated, and the number of repeats varies between individuals of the same species.
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.
Copy number variation (CNV) is one of the major forms of genetic alterations in cancer. It can affect the gene expression levels through dosage effects. Since CNV is much stable than gene expression, it can be a more robust and better biomarker than gene expression signatures, which can be easily disturbed. Copy Number Variation - an overview | ScienceDirect Topics sciencedirect.com medicine-and-dentistry sciencedirect.com medicine-and-dentistry

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