Dna copy number variations. Medical search. Frequent questions

The QIAseq Single Cell DNA Library Kit UDI provides a complete solution for whole genome sequencing from isolated single cells or low amounts of genomic DNA. (qiagen.com)
The kit delivers exceptional genome coverage from single cells, populations of cells and low quantities of genomic DNA, including regions with high GC-content. (qiagen.com)
After lysis, genomic DNA is amplified using the proof-reading, ultra-high fidelity REPLI-g DNA polymerase. (qiagen.com)
E2F1 CNV was measured in genomic DNA isolated from blood of 552 patients diagnosed with melanoma and 520 healthy subjects using TaqMan Copy Number Assays. (biomedcentral.com)
Finally, we identified aberrant methylation in multiple genes also targeted by recurring DNA copy number alterations in ALL, suggesting that these genes are inactivated far more frequently than suggested by structural genomic analyses alone. (lu.se)
Problems that arise during DNA replication can drive genomic alterations that are instrumental in the development of cancers and many human genetic disorders. (elifesciences.org)
Megabase size molecules of genomic DNA are isolated and labelled at a specific 6 or 7 base pair sequence motifs. (mdanderson.org)
Analysis of genomic DNA shows a simple pattern for Sgt2 indicative of low copy number. (usda.gov)
The array was employed in a process known as comparative genomic hybridization (CGH), which involves tagging genomic DNA from two individuals and then co-hybridizing it to the array. (analytica-world.com)
DNA microarrays using comparative genomic hybridization (CGH) are frequently used for CNV screening. (bio-rad.com)
The genomic similarities described between species are usually based on comparing a few specific regions of DNA from a small number of representative individuals. (science20.com)
Genomic variations such as addition or deletion of segments of DNA are commonly observed in a population. (jove.com)
Genomic variations in a population can arise due to single nucleotide changes in the DNA or structural changes to chromosomes. (jove.com)
An allele is one of two or more versions of DNA sequence (a single base or a segment of bases) at a given genomic location. (genome.gov)
An individual inherits two alleles, one from each parent, for any given genomic location where such variation exists. (genome.gov)
On the prostate cancer front, Genomic Health said that it delivered triple the number of prostate tests during the quarter ended March 31 compared to the same period last year. (genomeweb.com)
Last month, Genomic Health published the first of two decision impact studies on its prostate cancer test in the journal Urology Practice showing use of the test substantially increased the number of men deemed eligible for active surveillance rather than immediate treatment. (genomeweb.com)
Comparative genomic hybridization (aCGH) is a powerful diagnostic tool for detecting DNA copy number gains and losses associated with chromosome abnormalities. (enzolifesciences.com)
With optimized, proprietary reagents, the Enzo Life Sciences CGH Labeling Kits for oligo arrays produce high quality data using as little as 0.25 µg of genomic DNA, without a need for pre-amplification. (enzolifesciences.com)
Comparative genomic hybridization (CGH) has been developed to elucidate genome-wide sequence copy number variation (CNV) between different genomes, such as the differential amplification or deletion of genetic regions between tumor DNA and normal DNA from neighboring unaffected tissue [ 7-10 ]. (idtdna.com)
High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. (idtdna.com)
Array comparative genomic hybridization in patient one and patient two revealed copy-number variant (CNV) deletions, respectively, ~ 1.45 Mb in size involving FOXF1 and an ~ 0.7 Mb in size involving FOXF1 enhancer and leaving FOXF1 intact. (researchgate.net)
The genomic variation in colorectal cancer cells is tremendous and emphasizes that BAC array CGH is presently more powerful than available statistical models to discriminate DNA sequence information related to outcome. (lu.se)

Recent studies based on genome-wide study of copy number variations (CNVs) have detected novel recurrent submicroscopic copy number changes, including recurrent deletions at 1q21.11, 15q11.3, 15q13.3, and the recurrent CNV at the 2p16.3 neurexin 1 locus. (nih.gov)
We detected digitized copy-number variations (CNVs) of a single cancer cell. (nih.gov)
Since germline copy number variations (CNVs) have been associated with increased susceptibility to different types of cancer, the aim of our study was to assess germline E2F1 CNV in melanoma patients. (biomedcentral.com)
Some SVs, such as deletions and duplications, change the dosage of DNA and are considered copy number variations (CNVs). (mdanderson.org)
In order to decipher this level of architecture, scientists have developed powerful new experimental and algorithmic methods to detect copy number variants (CNVs)-defined as large deletions and duplications of DNA segments. (analytica-world.com)
While this is a cost-effective means of obtaining large amounts of data, scientists have struggled to accurately determine CNV copy number and to precisely define the boundaries of CNVs in the genome. (analytica-world.com)
As with SNPs, consortiums, such as the CNV Project coordinated by the Wellcome Trust Sanger Institute, are studying CNVs in order to investigate a number of questions including the effects of CNVs on gene expression, their roles in disease and human evolution, and their usefulness in mapping lineages. (bio-rad.com)
The first were short sections of non-coding DNA sequence that varied in the number of copies-repeated units-called copy number variants or CNVs. (icr.org)
From these analyses, the researchers found that epigenetics correlated well with increased diversity among species while CNVs, based on actual DNA sequences, did not. (icr.org)
CNVs are deletions or duplications of segments of DNA. (promises.com)
The second major source of variation, first described in 2006, are known as copy number variants (CNVs). (science20.com)
If the chromosomal segment involved contains a gene, the CNVs can increase the copy number of that gene by duplication and insertion or decrease it by deletion that results in null genotype. (jove.com)
While CNVs usually cover large DNA sequence variations, single nucleotide polymorphisms or SNPs are random, single base substitutions found throughout the genome. (jove.com)
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. (jove.com)

DNA methylation is a chemical addition to a piece of DNA that turns it on or off. (cdc.gov)
Epigenetics is the study of changes in phenotype caused by something other than changes in the underlying DNA sequence (for example, DNA methylation). (cdc.gov)
This package contains a set of processing and plotting methods for performing copy-number variation (CNV) analysis using Illumina 450k or EPIC methylation arrays. (bioconductor.org)
Previous studies of DNA methylation suggest epigenetic alterations may also be important, but an integrated genome-wide analysis of genetic and epigenetic alterations in ALL has not been performed. (lu.se)
We analyzed 137 B-lineage and 30 T-lineage childhood ALL cases using microarray analysis of DNA copy number alterations and gene expression, and genome-wide cytosine methylation profiling using the HpaII tiny fragment enrichment by ligation-mediated PCR (HELP) assay. (lu.se)
We found that the different genetic subtypes of ALL are characterized by distinct DNA methylation signatures that exhibit significant. (lu.se)
Just one year prior to this 2014 study, 1 the epigenetic basis of speciation was demonstrated in birds in which the progressive geographical spread and ecological patterns of adaptation for a newly introduced songbird species were characterized by differences in DNA methylation patterns, not variation in the actual DNA sequence. (icr.org)
The second factor studied was epigenetically-based, using an analysis of DNA methylation patterns around the genome. (icr.org)
2013. Patterns of DNA methylation throughout a range expansion of an introduced songbird. (icr.org)
Infinium MethylationEPIC BeadChip arrays were used for genome-wide DNA methylation analysis and the determination of copy number variations (CNV). (eur.nl)
Two DNA methylation-based tumor classifiers were used for risk stratification. (eur.nl)
Results: Full analysis (genome-wide DNA methylation and NGS) was successfully performed on 654 tumors. (eur.nl)
Blood cell DNA methylation biomarkers in preclinical malignant pleural mesothelioma: The EPIC prospective cohort. (who.int)
DNA methylation and copy number variation profiling of T-cell lymphoblastic leukemia and lymphoma. (cancercentrum.se)

The human genome has a total length of approximately 3.2 billion base pairs (bp) across 46 chromosomes of DNA as well as slightly under 17,000 bp DNA in cellular mitochondria. (wikipedia.org)
DNA is packaged into small units called chromosomes. (cdc.gov)
There are 22 pairs of numbered chromosomes, called autosomes, and one pair of sex chromosomes, which can be XX or XY. (cdc.gov)
For example, the chromosome that normally has sections in order as A-B-C-D might instead have sections A-B-C-C-D (a duplication of "C") or A-B-D (a deletion of "C"). The authors theorized that cigarette smoking serves as an environmental stressor on the cells and contributes to genome instability, generating DNA changes in certain chromosomes. (harvard.edu)
We speculate that as both ZZ and ZZW individuals develop male gonads, the ratio between the number of Z chromosomes and autosomes, and not the presence of the W chromosome in the genome, drives sex determination in the advanced snakes. (karger.com)
In a broad sense, a genome can be considered as the collective set of genes, non-coding DNA sequences, and all their variants that are located within the chromosomes of members of a given species. (science20.com)
And indeed, no one would ever mistake a chimpanzee genome for a human genome, in part because they differ in DNA amount and chromosome number (human chromosome 2 is a product of fusion of what remain as two separate chromosomes in other great apes). (science20.com)
Because the DNA sequences of even close family members are not identical, it can also be said that each individual carries a unique genome consisting of the DNA in his or her chromosomes. (science20.com)
Aneuploidy is an abnormality in the number of chromosomes in a cell due to loss or duplication. (genome.gov)
In humans, aneuploidy would be any number of chromosomes other than the usual 46. (genome.gov)
Autosomal" means that the gene in question is located on one of the numbered, or non-sex, chromosomes. (genome.gov)
An autosome is one of the numbered chromosomes, as opposed to the sex chromosomes. (genome.gov)
Telomeres are structures at the ends of chromosomes that contain repetitive stretches of DNA. (cdc.gov)
DNA (deoxyribonucleic acid) is the cell's genetic material, contained in chromosomes within the cell nucleus and mitochondria. (msdmanuals.com)

TOP2A (DNA topoisomerase II alpha) gene, mapped to chromosome 17q12-q21, covers approximately 27.5 kb and includes 35 exons, encoding a 170 kDa protein [ 7 ]. (jcancer.org)
A chromosome contains a single, long piece of DNA with many different genes. (cdc.gov)
Its genome contains one genome copy from the S. uvarum parental genome and two heterozygous copies of the S. cerevisiae parental genome, with the exception of a monosomic S. cerevisiae chromosome III, where the sex-determining MAT locus is located. (frontiersin.org)
Eukaryotic DNA replication initiates at multiple origin sites along each chromosome and terminates when replication forks (RFs) from adjacent origins converge. (elifesciences.org)
A large genetic study, it found that a duplicated region of DNA in chromosome 5 can predispose people to major depression. (promises.com)
Epplen JT, McCarrey JR, Sutou S, Ohno S: Base sequence of a cloned snake W-chromosome DNA fragment and identification of a male specific putative mRNA in the mouse. (karger.com)
Analysis of syndromic DNA using an oligonucleotide microarray (Agilent 4 x 180K) demonstrated the characteristic deletion in 15q11.2-q13 (chromosome 15) found in patients with Prader-Willi syndrome. (enzolifesciences.com)
In 2008, Maris led the team that identified common DNA variations on chromosome 6, the first time researchers found the cancer's genetic origin. (scienceblog.com)
In 2009, Maris published two more gene studies, identifying common variants in the gene BARD1 and copy number variants on chromosome 1 that raised the risk of neuroblastoma. (scienceblog.com)
Major tumor DNA alterations occurred in chromosome 8, 13, 18 and 20, where short survival included gain in 8q and loss in 8p. (lu.se)
Copy number gains related to tumor progression were most common on chromosome 7, 8, 19, 20, while corresponding major losses appeared in chromosome 8. (lu.se)
Two copies of chromosome 21, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
Chromosome 21 is the smallest human chromosome, spanning about 48 million base pairs (the building blocks of DNA) and representing 1.5 to 2 percent of the total DNA in cells. (medlineplus.gov)
Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 21. (medlineplus.gov)
Trisomy 21 means that each cell in the body has three copies of chromosome 21 instead of the usual two copies. (medlineplus.gov)
Affected people have two copies of chromosome 21 plus extra material from chromosome 21 attached to another chromosome, resulting in three copies of genetic material from chromosome 21. (medlineplus.gov)
In a very small percentage of cases, Down syndrome results from an extra copy of chromosome 21 in only some of the body's cells. (medlineplus.gov)
Researchers believe that having extra copies of genes on chromosome 21 disrupts the course of normal development, causing the characteristic features of Down syndrome and the increased risk of health problems associated with this condition. (medlineplus.gov)
Other changes in the number or structure of chromosome 21 have a variety of effects on health and development. (medlineplus.gov)
Sex-chromosome copy number variations are also implicated in the risk of SLE. (medscape.com)
These data suggest that the predisposition of women to developing SLE is related to X chromosome copy number, not to sex or sex hormones. (medscape.com)
Because the enzymes that copy DNA aren't able to continue to the very end of the sequence, a bit of DNA is lost each time the chromosome is copied. (cdc.gov)

For comparison, rhesus macaques exhibit 2.5-fold greater DNA sequence diversity compared to humans. (wikipedia.org)
A mutation is a change in a DNA sequence. (cdc.gov)
Due to the PCR-free workflow, this kit is highly suited for the analysis of aneuploidy, copy number and sequence variation in single cells from rare samples. (qiagen.com)
Alternatively, other approaches now aim to sequence longer contiguous pieces of DNA, which are essential for resolving structurally complex regions. (nature.com)
Optical Genome Mapping is non-sequencing technology capable of analyzing large eukaryotic genomes and their structural features at a high resolution by evaluation of patterns generated by fluorophore tags labeled to specific sequence motifs within extremely long DNA molecules, of more than 300 kb (3, 4). (mdanderson.org)
One paper describes a new whole-genome tiling path microarray, which was constructed from the same DNA used to sequence the human genome in 2001. (analytica-world.com)
While it was once thought that this process was strictly facilitated by DNA sequence variability, Darwin's classic example of speciation in finches now includes a surprisingly strong epigenetic component as well. (icr.org)
Thus, the epigenetic regulation of the genome can produce differences in traits without actually being related to changes in the DNA sequence itself. (icr.org)
In reality, researchers are now discovering that organisms can robustly adapt to different ecological niches without major changes in their DNA sequence. (icr.org)
The Human Genome Project, being a public effort, had an official policy of releasing all sequence data to public databases within 24 hours of completion, thereby making the information freely available to anyone who carried a copy of the 'human genome' in their cells. (science20.com)
A codon is a DNA or RNA sequence of three nucleotides (a trinucleotide) that forms a unit of genetic information encoding a particular amino acid. (genome.gov)
mskilab-org/JaBbA: MIP based joint inference of copy number and rearrangement state in cancer whole genome sequence data. (github.com)
Telomeres also protect a chromosome's DNA sequence as it is being copied during cell division. (cdc.gov)
More than 68 percent had less than 5 copies of the IS sequence suggesting that our local M.tuberculosis strains have a fewer number of copies compared to data shown in most countries. (who.int)

Kindred cells can have different genomes because of dynamic changes in DNA. (nih.gov)
The QIAseq Single Cell DNA Library Kit UDI includes protocols for unbiased whole genome amplification and for target enrichment of small genomes, such as viral DNA or mitochondrial genomes. (qiagen.com)
Since the completion of the human genome project in 2003, extraordinary progress has been made in genome sequencing technologies, which has led to a decreased cost per megabase and an increase in the number and diversity of sequenced genomes. (nature.com)
For this, we focus on the three main groups of CIEs: mitochondrial DNA, chloroplast DNA, and symbiont genomes. (nature.com)
Common systems for analyzing genomes typically chop long DNA molecules into fragments less than a couple thousand base pairs long and multiply them en masse, like a copy machine, to develop a chemical profile of each piece. (scienceblog.com)
Like mammalian genomes, the sea urchin genome contains a lot of junk DNA, especially repetitive DNA. (blogspot.com)
This is about the same number that we have in our genomes. (blogspot.com)

Although a small number of genetic variants are found more frequently in certain geographic regions or in people with ancestry from those regions, this variation accounts for a small portion (~15%) of human genome variability. (wikipedia.org)
Structural Variants (SVs) caused by the reorganization of the DNA may connect two distal fragments together leading to gene fusions and chimeric proteins when two distant genes are joined into one. (mdanderson.org)
For some variants there can be copy number differences in the hundreds between individuals, however, for most variants copy number differences are much smaller. (bio-rad.com)
2 In contrast, traditional Darwinian evolution alleges that random changes in the DNA itself generate new and useful variants that are then selected by the environment. (icr.org)

A small, but significant number of genes appear to have undergone recent natural selection, and these selective pressures are sometimes specific to one region. (wikipedia.org)
Can a change in the number of genes affect health and development? (medlineplus.gov)
People have two copies of most genes, one copy inherited from each parent. (medlineplus.gov)
In some cases, however, the number of copies varies-meaning that a person can have one, three, or more copies of particular genes. (medlineplus.gov)
Variation in gene copy number can influence the activity of genes and the functioning of proteins made from them, which may affect body processes. (medlineplus.gov)
Both the DNA nucleotides and the proteins that DNA is wrapped around (called histones ) can be chemically tagged by different types of controlling molecules that determine how genes are turned on and off. (icr.org)
5 So if the genes are essentially the same, then what seems to be the major source of variation? (icr.org)
The preliminary count of the number of genes is 23,300. (blogspot.com)
Mathematical Vector analysis implied a number of BAC-clones in tumor DNA with genes of potential importance for death or survival. (lu.se)
The normal RUNX1 protein, produced from the RUNX1 gene, is part of a protein complex called core binding factor (CBF) that attaches (binds) to DNA and turns on genes involved in blood cell development. (medlineplus.gov)
The RUNX1-ETO fusion protein forms CBF and attaches to DNA, but instead of turning on genes that stimulate the development of blood cells, it turns those genes off. (medlineplus.gov)
Although some single genes have been implicated to play a causative role in SLE, current knowledge points toward a large number of genes being involved in a multifactorial-type inheritance pattern in most patients. (medscape.com)
Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or the code for functional ribonucleic acid (RNA) molecules. (msdmanuals.com)
Genes consist of deoxyribonucleic acid (DNA). (msdmanuals.com)

The main role of DNA is to act as the instructions for making proteins. (cdc.gov)
We find that this type of non-canonical fork convergence in fission yeast is prone to trigger deletions between repetitive DNA sequences via a mechanism we call Inter-Fork Strand Annealing (IFSA) that depends on the recombination proteins Rad52, Exo1 and Mus81, and is countered by the FANCM-related DNA helicase Fml1. (elifesciences.org)
This guideline applies to well-established and well-characterized biotherapeutic products such as recombinant DNA-derived therapeutic proteins. (who.int)

Deletions and duplications result in copy number changes. (bio-rad.com)
Copy number variation results from insertions, deletions, and duplications of large segments of DNA that are at least one thousand nucleotides (also called 1 kilobase or 1kb) in length. (medlineplus.gov)

The authors measured the DNA copy numbers to identify structural variations in the tumor cells. (harvard.edu)
DNA and RNA from tumor and normal colon were used from cancer patients grouped according to death, survival or Dukes A, B, C and D tumor stage. (lu.se)
Confirmed DNA alterations in all Dukes A - D were judged relevant for carcinogenesis, while changes in Dukes C and D only were regarded relevant for tumor progression. (lu.se)
Present results suggest that a majority of DNA alterations observed in colorectal cancer are secondary to tumor progression. (lu.se)

Bionano Optical Genome Mapping directly observes structural variations by linearizing and imaging DNA in its native state using massively parallel Nano-Channels. (mdanderson.org)
As a result, Bionano mapping yields hundreds of times more contiguous assembly than sequencing technologies alone can provide with unparalleled sensitivity for large structural variations (SVs) from 500 bp to mega base pair lengths. (mdanderson.org)
Copy number variation or CNV is an umbrella term that defines the structural variations involving DNA segments of more than 1 kilo base pair. (jove.com)
It can be used for discovering various patterns of structural variations. (github.com)
To get a better picture of those structural variations, Schwartz and his team developed the Optical Mapping System, a wholly new type of genome analysis that directly examines millions of individual DNA molecules. (scienceblog.com)
We've been thinking about these large structural variations for decades," says Schwartz, whose work is funded by the National Institutes for Health and the National Science Foundation. (scienceblog.com)

Microarray-based gene expression profiling and DNA copy number variation analysis of temporal fossa arachnoid cysts. (uib.no)
They lead to variation in gene expression levels and may account for a large amount of phenotypic variation among individuals and ethnic populations, including differential responses to drugs and environmental stimuli. (analytica-world.com)
In what follows we limit ourselves to the analysis of gene expression measurements obtained using microarrays with small spots of DNA fixed to glass slides. (lu.se)
Levels of gene expression are measured using a preparation of fluorescently labeled tissue RNA (copies of DNA), together with reference RNA labeled with a different fluorochrome, hybridized onto the slides. (lu.se)

Once again, the epigenetic profiles of the different bird species for all of these gene groups were different while the DNA sequences were nearly identical. (icr.org)
Thus, even though humans and chimpanzees are about 98% identical in terms of their DNA sequences, there is still such as thing as a 'human genome' and a 'chimpanzee genome' rather than a continuum with humans and chimps at two mildly divergent extremes. (science20.com)
In terms of DNA sequences on a large scale, members of the same species are extremely similar: overall, any two human beings are probably about 99.9% the same genetically. (science20.com)
contain sequences of DNA. (biorxiv.org)
By containing both the sequences and information about their relative variations, the variation graph provides a complete and powerful foundation for many bioinformatic applications. (biorxiv.org)
Most of these sequences qualify as junk but they are littered with defective transposable elements that are already included in the calculation of junk DNA. (blogspot.com)
In conclution, DNA amplification is a rapid, reliable and accurate method with a high degree of sensitivity and specificity for the detection of Mycobacterium tuberculosis DNA sequences and it can replace the conventional culture method in the diagnosis of extra pulmonary tuberculosis and tuberculosis meningitis except in the situation when antibiotic sensitivity results are required. (who.int)

The kit includes all reagents required for cell lysis, whole genome amplification using REPLI-g DNA polymerase, enzymatic DNA fragmentation and PCR-free NGS library preparation compatible with Illumina NovaSeq and other NGS instruments. (qiagen.com)
In comparison to PCR-based methods of whole genome amplification, the Multiple Displacement Amplification (MDA) technology included in the QIAseq Single Cell DNA Library Kit UDI eliminates PCR duplicates and minimizes GC-bias, ensuring high library diversity and maximum genome coverage. (qiagen.com)
DNA amplification and detection were carried out as thema or exudate. (cdc.gov)
This differs fundamentally from qPCR, in which the exponential part of the amplification curves for the target and reference are used to calculate copy number via a standard curve. (bio-rad.com)
The objective of the study was to develop a rapid method to detect Mycobacterium tuberculosis from clinical samples and the applicability of DNA amplification techniques to a developing country like Sri Lanka. (who.int)

Studies have shown that certain DNA changes can strongly predispose people to psychotic disorders, but the full scope of DNA changes in schizophrenia and bipolar disease has not been explored. (healthresearchbc.ca)
Dr. Robert Holt is using new technology called microarray comparative genome hybridization to scan the entire genome of patients with schizophrenia and bipolar disease to detect losses or gains of DNA. (healthresearchbc.ca)

Human genetic variation is the genetic differences in and among populations. (wikipedia.org)
Even monozygotic twins (who develop from one zygote) have infrequent genetic differences due to mutations occurring during development and gene copy-number variation. (wikipedia.org)
Lenape showed differences attrributable to somaclonal variation. (usda.gov)
Differences in the number of copies of a particular DNA segment may or may not be associated with a detectable phenotype change. (bio-rad.com)
When using qPCR assays to estimate differences in CNV, many replicates are required to achieve sensitive discrimination of differences in copy number. (bio-rad.com)
More than 10 percent of the human genome appears to contain differences in gene copy number. (medlineplus.gov)
While much of this variation does not affect health or development, some differences influence a person's risk of disease , particularly some types of cancer, or response to certain drugs . (medlineplus.gov)
These involve differences among individuals in the insertion and deletion of larger DNA segments. (science20.com)
MADISON - Genetic abnormalities are most often discussed in terms of differences so miniscule they are actually called "snips" - changes in a single unit along the 3 billion that make up the entire string of human DNA. (scienceblog.com)
Those structural differences popped into clear view through computer analysis of more than 500 linear feet of DNA molecules analyzed by the powerful genome mapping system developed over nearly two decades by David C. Schwartz, professor of chemistry and genetics at UW-Madison. (scienceblog.com)
An enormous part of the genome is composed of repeating DNA, and important differences are often associated with areas that have a lot of repeated sections. (scienceblog.com)

JaBbA builds a genome graph based on junctions and read depth from whole genome sequencing, inferring optimal copy numbers for both vertices (DNA segments) and edges (bonds between segments). (github.com)
In 1972 the late geneticist Susumu Ohno coined the term "junk DNA" to describe all noncoding sections of a genome, most of which consist of repeated segments scattered randomly throughout the genome. (blogspot.com)

Adenine (A) is one of the four nucleotide bases in DNA, with the other three being cytosine (C), guanine (G) and thymine (T). Within a double-stranded DNA molecule, adenine bases on one strand pair with thymine bases on the opposite strand. (genome.gov)
The pattern of these cuts along each molecule thread produces a unique barcode, identifying the DNA molecule and revealing genetic changes it harbors. (scienceblog.com)
DNA contains the code, or blueprint, used to synthesize a protein or a ribonucleic acid (RNA) molecule. (msdmanuals.com)
Each DNA molecule is a long double helix that resembles a spiral staircase containing millions of steps. (msdmanuals.com)
A gene is a segment of DNA that provides the code to construct a protein or RNA molecule. (msdmanuals.com)
The DNA molecule is a long, coiled double helix that resembles a spiral staircase. (msdmanuals.com)

Mitochondrial DNA (mtDNA) is more susceptible to oxidative damage than nuclear DNA. (maastrichtuniversity.nl)

Ren L, Liu J, Gou K, Xing C. Copy number variation and high expression of DNA topoisomerase II alpha predict worse prognosis of cancer: a meta-analysis. (jcancer.org)
Low background and comprehensive coverage make this kit highly suited for the analysis of aneuploidy, copy number variations and mutations from single cells and low-input samples. (qiagen.com)
A new study led by Harvard School of Public Health (HSPH) researchers used a genome-wide analysis to assess abnormalities in the DNA structure of 264 nonsmallcell-lung cancer (NSCLC) tumors from Boston patients and compared the findings to the average number of cigarette packs smoked per year by the patients. (harvard.edu)
Droplet Digital™ PCR technology overcomes a number of inherent limitations of qPCR and microarray techniques for CNV analysis. (bio-rad.com)
Deletions were analyzed by long range PCR, point mutations by heteroduplex analysis of the D-loop region, and copy number changes by real-time PCR. (maastrichtuniversity.nl)
In the analysis of the relationship between prednisolone/immunosuppressive therapy and DEFA1A3-CNV, the DEFA1A3 copy number was significantly higher in the non-remission group than in the remission group following prednisolone treatment. (ecco-ibd.eu)
We discuss amplicon-based DNA barcoding and metabarcoding for the analysis of community diversity and molecular gut content analysis for assessing predator-prey relationships. (springer.com)
We then address the development of theoretical frameworks for community-level studies, and finally highlight critical gaps and future directions for DNA analysis of spider communities. (springer.com)
dc.title: PCR based detection techniques and DNA finger printing by restriction fragment analysis of mycobacterium tuberculosis dc.contributor.author: MAGANAARACHCHI, DN dc.description.abstract: In Sri Lanka definitive diagnosis of tuberculosis depends on the culture of mycobacteria, but the slow growth of the organism delays the diagnosis. (who.int)

Additionally, the high-fidelity REPLI-g DNA polymerase introduces fewer sequencing errors than high-fidelity PCR enzymes, reducing false positives and enabling more sensitive mutation detection. (qiagen.com)
Accurate and reliable high-throughput detection of copy number variation in the human genome. (analytica-world.com)
Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays. (analytica-world.com)
Examination of direct smears for acid fast bacilli is the widely used method for the detection of mycobacteria, but lacks the desired specificity and relatively large number of bacteria is needed for detection. (who.int)

TOP2A encodes an enzyme which is implicated in almost any process of DNA metabolism including transcription, replication, movement and untangling [ 3 , 8 , 9 ], which catalyze the passage of two DNA duplexes across each other to resolve the entanglements and coiling of cellular DNA [ 10 ]. (jcancer.org)
This so-called recombination-dependent replication (RDR) helps ensure that DNA is fully replicated prior to sister chromatid segregation, thereby avoiding mitotic catastrophes. (elifesciences.org)

on average, the sections of Neanderthal DNA that have been recovered and sequenced are 99.5% identical to that of humans -- but these, too, are considered to be part of a separate genome. (science20.com)
I've hesitated to comment about the sequencing of Neanderthal DNA 'cause I haven't read the papers. (blogspot.com)

By sequencing three kindred cells, we were able to identify individual single-nucleotide variations (SNVs), with no false positives detected. (nih.gov)
Genetic variation among humans occurs on many scales, from gross alterations in the human karyotype to single nucleotide changes. (wikipedia.org)
These variations can be a single nucleotide or a larger chromosomal variation. (jove.com)

We have identified a chloroplast DNA polymorphism that separates shortleaf, slash, longleaf, and loblolly pines into three groups. (researchgate.net)
A chloroplast DNA restriction fragment length polymorphism (RFLP) and its relationship with cone morphology was studied in a sympatric population of lodgepole pine and jack pine. (researchgate.net)
Results obtained from Restriction fragment length polymorphism typing show that the mahority of circulating Mycobacterium tuberculosis strains in Sri Lanka belong to a limited number of families, but the degree of IS6160 DNA polymorphism among strains were high. (who.int)

citation needed] The second main cause of genetic variation is due to the high degree of neutrality of most mutations. (wikipedia.org)
DNA mutations in a gene can change what protein is made. (cdc.gov)
We aimed to investigate the level of mtDNA damage (deletions, mutations and changes in copy number) in bronchoalveolar lavage (BAL) cells from 10 preterm infants (27-30 weeks). (maastrichtuniversity.nl)

The lack of discontinuities in genetic distances between human populations, absence of discrete branches in the human species, and striking homogeneity of human beings globally, imply that there is no scientific basis for inferring races or subspecies in humans, and for most traits, there is much more variation within populations than between them. (wikipedia.org)
Sub-millimeter sections of single DNA molecules - thread-like and, in full, 4 to 5 inches long in humans - are coaxed onto treated glass surfaces. (scienceblog.com)

The study of human genetic variation has evolutionary significance and medical applications. (wikipedia.org)
In medicine, study of human genetic variation may be important because some disease-causing alleles occur more often in certain population groups. (wikipedia.org)
There are at least three reasons why genetic variation exists between populations. (wikipedia.org)
The Howard Hughes Medical Institute discusses the results of recent research on copy number variation in the news release, Genetic Variation: We're More Different Than We Thought . (medlineplus.gov)
To Teague, the Optical Mapping System provides access to a new frame of reference on human genetic variation. (scienceblog.com)
2003 ). DNA barcodes can provide information on genetic variation within and between species, rapidly assign taxonomic status across divergent lineages (Hebert and Gregory 2005 ), and identify the prey composition of predators' gut contents (Agustí et al. (springer.com)

After cell lysis, a high-fidelity MDA reaction is used to amplify microgram amounts of gDNA using the high-fidelity REPLI-g DNA Polymerase. (qiagen.com)

Labelled DNA is loaded onto a Saphyr chip and placed into the Saphyr instrument where electrophoresis initiates to move mega base length molecules from bulk solution into the silicon chip micro-environment before unwinding and linearizing the DNA in the Nano-Channel arrays. (mdanderson.org)
DNA was used for CGH in BAC and cDNA arrays. (lu.se)

A number of studies have indicated that DNA topoisomerases play an essential role in the DNA world through allowing DNA double helices or strands to cut across each other [ 4 , 5 ]. (jcancer.org)
DNA is made up of two strands that wind around each other and looks like a twisting ladder (a shape called a double helix). (cdc.gov)
The long strands of DNA straighten out on the glass, and are clipped into sections by enzymes and scanned by automated microscopes. (scienceblog.com)

Until recently, real-time quantitative PCR (qPCR) assays and microarray hybridization have been the main methods used to determine copy number variation (CNV) in the genome. (bio-rad.com)

It modulates the topological states of DNA by transient cleavage, strand passing and religation of double-stranded DNA resulting in decatenation of intertwined DNA molecules and relaxation of supercoiled DNA [ 8 , 9 ]. (jcancer.org)
A DNA strand has four different bases arranged in different orders. (cdc.gov)
Antisense is the non-coding DNA strand of a gene. (genome.gov)
The scan results are passed along to databases for storage and retrieval, and handled by software that stitches collections of bar-coded molecules together with others to reconstitute the entire strand of DNA and quickly pinpoint genetic changes. (scienceblog.com)

If both parents have one copy of the mutated gene, each child has a 25% chance of having the disease, even though neither parent has it. (cdc.gov)
DEFA1A3 copy number is a predictive marker of disease severity and prednisolone treatment response. (ecco-ibd.eu)

DEFA1A3-CNV was measured using droplet digital PCR after DNA extraction from peripheral blood mononuclear cells. (ecco-ibd.eu)

High-throughput sequencing (HTS), particularly DNA metabarcoding, enables community-wide analyses of diversity and interactions at unprecedented scales and at a fraction of the cost that was previously possible. (springer.com)

Chloroplast DNA typical of jack pine. (researchgate.net)

Deoxyribonucleic acid (DNA) contains the genetic instructions in all living things. (cdc.gov)

While scientists have known that DNA alterations occurred in lung cancer tumors, "this carefully assembled molecular epidemiology study had the additional exposure information to make the connection [to smoking as the cause]," Christiani said. (harvard.edu)

1. Feinberg AP, Vogelstein B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity . (idtdna.com)

Others, such as inversions and balanced translocation, do not change the DNA dosage. (mdanderson.org)

DNA polymorphisms amplified by arbitrary primers are useful as genetic markers. (idtdna.com)

The integrative building process included studying the behavior of fluids at microscopic scale, manipulating large DNA molecules and placing barcodes on them, automating high-powered microscopes to analyze single molecules, organizing the computing infrastructure to handle the data and algorithms to analyze whole human genome, and more. (scienceblog.com)

Less commonly, both copies of a gene may be missing. (medlineplus.gov)
[ 16 ] More commonly, a low gene copy number of C4 is seen as a risk factor for SLE, whereas a high copy number of C4 is protective against SLE. (medscape.com)

The latter study was the first ever to find a specific copy number variant that predisposes to a human cancer. (scienceblog.com)

Anatomy16

Organisms1

Diseases13

Chemicals and Drugs6

Analytical, Diagnostic and Therapeutic Techniques and Equipment25

Psychiatry and Psychology2

Phenomena and Processes56

Disciplines and Occupations4

Information Science6

Named Groups2

Health Care6

Genomic23

CNVs14

Methylation14

Chromosomes14

Chromosome23

Sequence14

Genomes7

Variants4

Genes14

Proteins3

Duplications2

Tumor4

Structural variations6

Gene expression4

Sequences7

Amplification5

Schizophrenia2

Differences11

Segments2

Molecule6

Mitochondrial1

Analysis9

Detection4

Replication2

Neanderthal DNA2

Single Nucleotide3

Polymorphism3

Mutations3

Humans2

Genetic variation6

Polymerase1

Arrays2

Strands3

Microarray1

Strand4

Disease2

Droplet Digital1

High-throughput1

Chloroplast1

Deoxyribonucleic1

Alterations occurred1

Restriction1

Translocation1

Primers1

Barcodes1

Commonly2

Variant1