*  Rare Kidney Disease Caused by Copy Number Variation
Copy number variations are large chunks of DNA either duplicated or deleted from our genes when passed down to children. CFHR5 ... The researchers, working with colleagues in Cyprus, identified an inherited kidney disorder caused by a copy number variation ... "It is a potentially serious disease, but easily detectable from a simple DNA or blood test." Although scientists do not yet ... "People who carry just one copy of the genetic mutation will almost certainly develop the condition," says Professor Patrick ...
  http://www.medindia.net/news/Rare-Kidney-Disease-Caused-by-Copy-Number-Variation-73184-1.htm
*  miRNA and miRNA target genes in copy number variations occurring in individuals with intellectual disability | BMC Genomics |...
Genomic DNA was extracted from peripheral blood using PUREGENE DNA Isolation Kits (Gentra, Minneapolis, MN). A pool of normal ... Micro RNA (miRNA)Copy number variants (CNVs)Copy number variant regions (CNVRs)Intellectual disabilities (ID)Functional ... We declare no conflict of interest in our manuscript titled as "miRNA and miRNA target genes in copy number variations ... It has been recently shown that genomic copy number variations (CNVs) can cause aberrant expression of integral miRNAs and ...
  https://bmcgenomics.biomedcentral.com/articles/10.1186/1471-2164-14-544
*  Plus it
We investigated DNA copy number variations (CNVs) in a cohort of 55 pediatric cancer patients attending the AC Camargo Hospital ... which is over twice the average length of rare copy number variations identified with the same array-CGH platform in a sample ... Eighteen copy number alterations were detected in 16 patients; these rare CNVs included complex rearrangements and ...
  http://cancerres.aacrjournals.org/content/71/18_Supplement/PR14
*  Lab Tools Articles - cancer, mass spectrometry and microscopy | The Scientist Magazine®
Techniques for Assessing Genomic Copy Number Variations. By Sarah C.P. Williams , October 1, 2016 ... Using the technique to study how RNA, DNA, lipids, and small molecules interact with proteins ... As the importance of genomic copy number variations for health and disease becomes clearer, researchers are creating new ways ...
  https://www.the-scientist.com/?articles.list/categoryNo/2921/category/Lab-Tools/tagNo/20,915,1045/tags/cancer,mass-spectrometry,microscopy/
*  Biotech 101: Copy Number Variation - HudsonAlpha Institute for Biotechnology
Copy number variants (CNVs) are an additional category of DNA variation involving large scale changes (1,000 to over a million ... It came as a surprise to many scientists just how much of our DNA variation is due to copy number changes. Previous studies ... including single nucleotide variations (SNVs), insertion-deletions (indels) and copy number variations (CNVs). Her recent work ... Copy Number Variation - Another way the genetic recipe differs. Imagine you are a member of a book club focused on cookbooks. ...
  https://beta.hudsonalpha.org/biotech-101-copy-number-variation
*  Gene Duplication | Physics Forums - The Fusion of Science and Community
Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be fully ascertained. We have ... The data obtained delineate linkage disequilibrium patterns for many CNVs, and reveal marked variation in copy number among ... So, of the ~ 30,000 genes we each have, ~ 3,000 come in multiple copies (e.g., more than the 2 from each parent) and the number ... A total of 1,447 copy number variable regions (CNVRs), which can encompass overlapping or adjacent gains or losses, covering ...
  https://www.physicsforums.com/threads/gene-duplication.145185/
*  Information Processing: Multiallelic copy number variation
Large multiallelic copy number variations in humans. Nature Genetics (2015) doi:10.1038/ng.3200. Thousands of genomic segments ... These new results probe surprisingly large variation in copy number (duplicated genomic segments) and its impact on gene ... We developed ways to use increasingly abundant whole-genome sequence data to identify the copy numbers, alleles and haplotypes ... We describe 'runaway duplication haplotypes' in which genes, including HPR and ORM1, have mutated to high copy number on ...
  http://infoproc.blogspot.com/2015/02/multiallelic-copy-number-variation.html
*  Methods and strategies for analyzing copy number variation using DNA microarrays
The association of DNA copy-number variation (CNV) with specific gene function and human disease has been long known, but the ... Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays. Genome Res. 2006;16:1575- ... High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat. Genet. 1998; ... Methods and strategies for analyzing copy number variation using DNA microarrays. Nigel P Carter ...
  http://pubmedcentralcanada.ca/pmcc/articles/PMC2697494/
*  Study of DNA Copy Numbers Variations and Gene Expression Profile of Bone Marrow Plasma Cells From MGUS and SMM. - Full Text...
Genetic: Genetic study of DNA copies Gene expression profiling, DNA copy number variation ... Study of DNA Copy Numbers Variations and Gene Expression Profile of Bone Marrow Plasma Cells From MGUS and SMM. (GENOMGUS). ... The purpose of this study is to describe DNA copy number variations and gene expression profiles of bone marrow plasma cells of ... Large Scale Study of DNA Copy Numbers Variations and Gene Expression Profile of Bone Marrow Plasma Cells From Monoclonal ...
  https://clinicaltrials.gov/ct2/show/NCT01079429
*  DNA Copy Number Variations | Profiles RNS
"DNA Copy Number Variations" by people in UAMS Profiles by year, and whether "DNA Copy Number Variations" was a major or minor ... DNA Copy Number Variations*DNA Copy Number Variations. *DNA Copy Number Variation ... "DNA Copy Number Variations" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH ( ... Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been ...
  https://uams-triprofiles.uams.edu/profiles/display/117558
*  Identification of genes with a correlation between copy number and expression in gastric cancer
0.5, maximum number of aberration regions. =. 10,000. The log2 ratio of 0.5 corresponds to a 1.4-fold variation in the DNA copy ... Table S4. Copy number associated gene expression changes. Pearson correlation coefficients between DNA copy number aberrations ... DNA copy number variations in gastric cancer. The 27 pairs of gastric samples were analyzed by aCGH as shown in Additional file ... 2B). DNA copy number variation profiling of N0 and N1-3 stages also revealed 18 significantly altered genomic regions (1q32.2, ...
  http://pubmedcentralcanada.ca/pmcc/articles/PMC3441862/
*  Focal high copy number gains and homozygous deletions i | Open-i
Focal high copy number gains and homozygous deletions in glioblastomas.Copy number analysis using DK and Illumina BeadChips ... DNA Copy Number Variations. *Gene Expression. *Gene Expression Profiling. *Gene Expression Regulation, Neoplastic ... Figure 1: Focal high copy number gains and homozygous deletions in glioblastomas.Copy number analysis using DK and Illumina ... A) Glioblastoma copy number karyotype generated utilizing Nexus Copy Number Professional Software (BioDiscovery Inc.). The most ...
  https://openi.nlm.nih.gov/detailedresult.php?img=PMC2992381_oncotarget-01-265-g001&req=4
*  Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma.
DNA Copy Number Variations / genetics. Humans. Kaplan-Meier Estimate. Melanoma / genetics*. Microarray Analysis. Mutation / ... 1). An evaluation of DNA copy number in 30 of the uveal melanomas, including seven with SF3B1 mutations, revealed no loss of ... Thus, we re-sequenced these exons in a total of 102 primary uveal melanomas and matching blood DNA samples and identified SF3B1 ... L.A.W. managed the tissue bank and clinical database, and prepared DNA and RNA samples. A.M.B. participated in the conception ...
  http://www.biomedsearch.com/nih/Recurrent-mutations-at-codon-625/23313955.html
*  Academic Programs Faculty - Last Initial T - Wake Forest School of Medicine
Proto-Oncogenes; DNA Copy Number Variations; Genetic Markers; Prostatectomy; Genes, p16 Academic: 336-716-7975. Department: 336 ...
  http://www.wakehealth.edu/School/FacultySR.htm?st=T&li=T&ft=R
*  Association of SNPs in EGR3 and ARC with Schizophrenia Supports a Biological Pathway for Schizophrenia Risk
Accordingly, variations in the immediate early gene EGR3, and its target ARC, should influence schizophrenia susceptibility. We ... The role of DNA copy number variation in schizophrenia. Biological psychiatry. 2009;66(11):1005-12. pmid:19748074. * View ... Recent high-profile studies of rare copy number variations (CNVs) and de novo variations enriched in schizophrenia patients ... Analysis of copy number variation (CNV) domains revealed that ARC resides within a CNV region (S1C Fig). ...
  http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0135076
*  Cited In for PubMed (Select 16327809) - PubMed - NCBI
Large scale variation in DNA copy number in chicken breeds.. Crooijmans RP, Fife MS, Fitzgerald TW, Strickland S, Cheng HH, ... Copy number variation prevalence in known asthma genes and their impact on asthma susceptibility. ... SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct. ... Massive screening of copy number population-scale variation in Bos taurus genome. ...
  https://www.ncbi.nlm.nih.gov/pubmed?linkname=pubmed_pubmed_citedin&from_uid=16327809
*  Genome-Wide Survey of Large Rare Copy Number Variants in Alzheimer's Disease Among Caribbean Hispanics | G3: Genes | Genomes |...
2007 Germ-line DNA copy number variation frequencies in a large North American population. Hum. Genet. 122(3-4): 345-353. ... 2007 Copy number variation in control population cohorts. Hum. Mol. Genet. 16 Spec No. 2: R168-73. ... 2010 Genome-wide scan of copy number variation in late-onset Alzheimer's Disease. J. Alzheimers Dis. 19(1): 69-77. ... 2008 Copy-number variations associated with neuropsychiatric conditions. Nature 455(7215): 919-923. ...
  http://www.g3journal.org/content/2/1/71.full
*  Strictly co-isogenic C57BL/6J-Prnp−/− mice: A rigorous resource for prion science | JEM
Recurrent DNA copy number variation in the laboratory mouse. Nat. Genet. 39:1384-1389. doi:10.1038/ng.2007.19. ... protein-coding DNA sequence. CNV. copy number variant. DEG. differentially expressed gene. eQTL. expression quantitative trait ... Increased de novo copy number variants in the offspring of older males. Transl. Psychiatry. 1:e34. doi:10.1038/tp.2011.30. ... A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat. Genet. 43:491-498. doi: ...
  http://jem.rupress.org/content/early/2016/02/23/jem.20151610
*  Statistical Analyses of Next Generation Sequence Data: A Partial Overview
2009, alignment tool); Xie and Tammi (2009, DNA copy number variation). For a comprehensive review of methods for ChIP-seq and ... CNV-seq, a new method to detect copy number variation using high-throughput sequencing. BMC Bioinformatics. 2009;10:80. [PMC ... Let lf be the length and let kf be the number of copies of the transcripts in the form of an isoform f F. Assuming every read ... Let, for a sample t, xtk denote the observed number of counts in lane k and let Ck denote the number of reads in lane k for k ...
  http://pubmedcentralcanada.ca/pmcc/articles/PMC2989618/
*  RECOMB Regulatory Genomics / Systems Biology / DREAM Conference 2010 | The New York Academy of Sciences
"About 80% of liver cancers have extensive DNA copy-number variations," Powers noted. He and his Cold Spring Harbor colleague ... Even before metastases are evident, the copy-number changes are predictive, in that patients with low copy numbers have better ... In other cancers, DNA copy-number changes are strikingly different from those in glioblastoma, Sander said. Prostate tumors ... Can structural variants, like copy-number variation, and zygosity be cheaply and accurately included in personal genome tests? ...
  https://www.nyas.org/ebriefings/recomb-regulatory-genomics-systems-biology-dream-conference-2010/
*  Julie M. Gastier-Foster, Ph.D. :: Nationwide Children's Hospital, Columbus, Ohio
Gene-resolution analysis of DNA copy number variation using oligonucleotide expression microarrays. BMC Genomics. Vol. 8, no. ... Gene-resolution analysis of DNA copy number variation using oligonucleotide expression microarrays. BMC Genomics. Vol. 8, no. ... Variability in interpreting and reporting copy number changes by array-based technology in clinical laboratories. Genet Med. ... Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories. ...
  https://www.nationwidechildrens.org/julie-m-gastier-foster
*  Efficient Homologous and Illegitimate Recombination in the Opportunistic Yeast Pathogen Candida glabrata | Genetics
1993 Yeasts have a four-fold variation in ribosomal DNA copy number. Yeast 9: 53-58. ... Transforming DNA, was added to the cells with 100 μg of denatured salmon sperm DNA and 0.5 ml of 0.1 m LiAc, 40% PEG (3350), 1 ... The flanking genomic DNA in all rescued plasmids was sequenced using primers that hybridize to the vector. The flanking DNA was ... 1984 Nucleotide sequence preference at rat liver and wheat germ type 1 DNA topoisomerase breakage sites in duplex SV40 DNA. ...
  http://www.genetics.org/content/151/3/979
*  LRP1B Deletion in High-Grade Serous Ovarian Cancers Is Associated with Acquired Chemotherapy Resistance to Liposomal...
Variation in DNA copy number among primary ovarian tumors and associated abdominal deposits. A, copy number genome in line view ... Variation in DNA copy number and gene expression among primary ovarian tumors and associated abdominal deposits Supp Fig S2. ... Regions of discrete copy number amplification Supp Table S6. Regions of discrete copy number deletion ... and 8479 based on the number of different genomic aberrations between the copy number profiles. Branch length is proportional ...
  http://cancerres.aacrjournals.org/content/72/16/4060.figures-only
*  Research progress of neuroblastoma related gene variations
Methods and strategies for analyzing copy number variation using DNA microarrays. Nature genetics. 2007;39:S16-21. [PMC free ... Copy number variations. Copy number variant (CNV) is an important and major source of variation in the human genome, comprising ... High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nature genetics. ... Besides common SNP variations, neuroblastoma was the first tumor that germline copy number variation was found to contribute to ...
  http://pubmedcentralcanada.ca/pmcc/articles/PMC5392342/
*  Ash A. Alizadeh, MD/PhD | Stanford Medicine Profiles
... in which fluorescence ratios at arrayed DNA elements provide a locus-by-locus measure of DNA copy-number variation, represents ... Therefore, analysis of DNA copy-number variation using cDNA microarrays would require a sensitivity of detection an order of ... We describe here a cDNA microarray-based CGH method, and its application to DNA copy-number variation analysis in breast cancer ... Comparative genomic hybridization (CGH) was developed to survey DNA copy-number variations across a whole genome. With CGH, ...
  https://med.stanford.edu/profiles/arash-alizadeh