Process of analyzing data produced by a test for DNA copy number variation
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.[1][2] Copy number variation can be detected with various types of tests such as fluorescent in situ hybridization, comparative genomic hybridization and with high-resolution array-based tests based on array comparative genomic hybridization (or aCGH), SNP array technologies and high resolution microarrays that include copy number probes as well an SNPs. Array-based methods have been accepted as the most efficient in terms of their resolution and high-throughput nature and the highest coverage (choose an array with over 2 million probes)[3] and they are also referred to as virtual karyotype. Data analysis for an array-based DNA copy number test can be very challenging though due to very high volume of data that come out of an array platform.
BAC (Bacterial Artificial Chromosome) arrays were historically the first microarray platform to be used for DNA copy number analysis. This platform is used to identify gross deletions or amplifications in DNA. Such anomalies for example are common in cancer and can be used for diagnosis of many developmental disorders. Data produced by such platforms are usually low to medium resolution in terms of genome coverage. Usually, log-ratio measurements are produced by this technology to represent deviation of patient's copy number state from normal. Such measurements then are studied and those that significantly differ from zero value are announced to represent a part of a chromosome with an anomaly (an abnormal copy number state). Positive log-ratios indicate a region of DNA copy number gain and negative log-ratio values mark a region of DNA copy number loss. Even a single data point can be declared an indication of a copy number gain or a copy number loss in BAC arrays.
^
Sebat, J.; et al. (2007). "Strong association of de novo copy number mutations with autism". Science. 316 (5823): 445–9. Bibcode:2007Sci...316..445S. doi:10.1126/science.1138659. PMC 2993504. PMID 17363630.
^
St Clair D (2008). "Copy number variation and schizophrenia". Schizophr Bull. 35 (1): 9–12. doi:10.1093/schbul/sbn147. PMC 2643970. PMID 18990708.
^
Bassem A. Bejjani and Lisa G. Shaffer (2006). "Application of Array-Based Comparative Genomic Hybridization to Clinical Diagnostics". J Mol Diagn. 8 (5): 528–33. doi:10.2353/jmoldx.2006.060029. PMC 1876176. PMID 17065418.
and 27 Related for: Copy number analysis information
Copynumberanalysis is the process of analyzing data produced by a test for DNA copynumber variation in an organism's sample. One application of such...
Copynumber variation (CNV) is a phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals...
Low CopyNumber (LCN) is a DNA profiling technique developed by the UK Forensic Science Service (FSS) which has been in use since 1999. In the United...
Evidence Shows". The New York Times. Stein, Richard A. (October 2015). "CopyNumberAnalysis Starts to Add Up". Genetic Engineering & Biotechnology News. 35 (17):...
the analysis of short sequences of DNA from specific loci all over the genome, which are isolated and enumerated. It detects genomic copynumber variations...
users. Copy prevention and copy control may be more neutral terms. "Copy protection" is a misnomer for some systems, because any number of copies can be...
A digital copy is a commercially distributed computer file containing a media product such as a film or music album. The term contrasts this computer file...
affected by duplications and deletions and that copynumberanalysis is common but multiallelic copynumber variants (mCNVs) were not as well studied. The...
factors. Researchers must carefully consider the number of measured variables to include in the analysis. EFA procedures are more accurate when each factor...
A semen analysis (plural: semen analyses), also called seminogram or spermiogram, evaluates certain characteristics of a male's semen and the sperm contained...
mutations, fusion genes, and DNA copynumber changes. Much of the research that set the foundation of genetic analysis began in prehistoric times. Early...
In computer science, amortized analysis is a method for analyzing a given algorithm's complexity, or how much of a resource, especially time or memory...
the "Hay copy" or "Hay draft". The Hay draft differed from the version of the Gettysburg Address published by John Nicolay in 1894 in a number of significant...
the report online from Murray's family in 2004. The Cornell copy is serialized as copynumber 3 of 30. The report forms a part of the law library's Donovan...
chromosome number is n (humans: n = 23).p28 Thus, in humans 2n = 46. So, in normal diploid organisms, autosomal chromosomes are present in two copies. There...
scale, a large number of mutants are usually introduced, leading to the compilation and execution of an extremely large number of copies of the program...
be informative. Molecular analysis, including gene sequencing and copynumberanalysis of GCDH, can be performed to confirm the diagnosis. Molecular testing...
tandem lengths. The number of repeat copies present at a locus can be visualized by means of a Multi-locus or Multiple Loci VNTR Analysis (MLVA). In short...
locations across the entire human genome. After analysis of the ROMA microarray image is completed, a copynumber profile of the entire human genome is generated...
modeling guidelines. The choice of method of sensitivity analysis is typically dictated by a number of problem constraints or settings. Some of the most common...
Muthuswamy began copynumberanalysis of healthy individuals, leading to the discovery of a new source of genetic variability, copynumber variations or...
proposed transactions, changes to be made in the ledger. Each node has a copy of the ledger's entire transaction history. If a transaction violates the...
work, or another right holder, the exclusive and legally secured right to copy, distribute, adapt, display, and perform a creative work, usually for a limited...
behaviour during mitosis and meiosis. Techniques used include karyotyping, analysis of G-banded chromosomes, other cytogenetic banding techniques, as well...
genetic analysis, a meiosis indicator is assigned to each position of the genome for each meiosis in a pedigree. The indicator indicates which copy of the...
father). 1907 copy of Vector Analysis Preface to Vector Analysis (1907) Table of contents to Vector Analysis (1907) First page of Vector Analysis (1907) Gibbs...