Copy number
Identification and characterization of copy number variations in cattle
... This is an author’s version published in: http://oatao.univ-toulouse.fr/ 17567 To cite this version: Letaief, Rabia and Esquerre, Diane and Barbieri, Johanna and Grohs, Cecile and Fritz, Sebastien and Klopp, ...
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Comparative Oncogenomic Analysis of Copy Number Alterations in Human and Zebrafish Tumors Enables Cancer Driver Discovery
... common copy number breakpoints in the chromosomal region that contains each centromere (Figure ...some’s copy number was altered (Table ...
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Aneuploid proliferation defects in yeast are not driven by copy number changes of a few dosage-sensitive genes
... To ensure that the CEN plasmids recapitulate copy number changes as they occur in cells harboring an extra chromosome, we conducted a series of control experi- ments. We first determined whether CEN ...
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Gene dosage compensation of rRNA transcript levels in Arabidopsis thaliana lines with reduced ribosomal gene copy number
... rDNA Copy Number To determine the impact of reducing rDNA levels to their functional minimum in a model plant, we reduced the number of 45S rDNA copies in Arabidopsis thaliana using transgenerational ...
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A DNA target-enrichment approach to detect mutations, copy number changes and immunoglobulin translocations in multiple myeloma
... sample and the mean depth of three cell lines with normal karyotype —as shown by the Genome-Wide Human SNP Array 6.0 (Af fimetryx, Inc., Santa Clara, CA, USA) —used as ‘normal controls’. We then derived the average LogR ...
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BIC-seq: a fast algorithm for detection of copy number alterations based on high-throughput sequencing data
... DNA copy number alterations (CNA), which are amplifications and deletions of certain regions in the genome, play an important role in the pathogenesis of cancer and have been shown to be associated with ...
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Detection of copy number variations from NGS data using read depth information: a diagnostic performance evaluation
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Tfam Knockdown Results in Reduction of mtDNA Copy Number, OXPHOS Deficiency and Abnormalities in Zebrafish Embryos
... mtDNA copy number and are less well ...mtDNA copy number only becomes apparent between 2 and 3 dpf ( Otten et ...mtDNA copy number and OXPHOS capacity becomes critically low at ...
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CNVmap: a method and software to detect and map copy number variants from segregation data
... Conrad D. F., D. Pinto, R. Redon, L. Feuk, O. Gokcumen, et al., 2010 Origins and functional impact of copy number variation in the human genome. Nature 464: 704–712. https://doi.org/10.1038/nature08516 ...
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Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study
... CONCLUSIONS: The global and regional effects on brain morphometry due to 16p11.2 CNVs generalize across site, computational method, age, and sex. Effect sizes on neuroimaging and cognitive traits are comparable. Findings ...
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Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth
... RESULTS Molecular karyotyping and FISH analyses A total of 93 patients, 68 males and 25 females, who presented with syndromic overgrowth were studied using array-CGH on a BAC/PAC microarray at a mean 1-Mb resolution. To ...
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Biostatistical algorithms for omics data in oncology - Application to DNA copy number microarray experiments
... its copy number. The procedure has a number of features of potential value for our problem: it has been shown to preserve contrasts and edges between regions (and should therefore detect breakpoints ...
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Integrative genome-wide analysis reveals a robust genomic glioblastoma signature associated with copy number driving changes in gene expression.
... small number of cases and due to inter-tumor ...with copy number driving changes in expression are likely to be functionally significant even if occurring in only few ...
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Assessment of Copy Number Variation using the Illumina Infinium 1M SNP-array: A comparison of methodological approaches in the Spanish Bladder Cancer / EPICURO Study.
... Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, Zhang H, Estes A, Brune CW, Bradfield JP, Imielinski M, Frackelton EC, Reichert J, Crawford EL, Munson J, Sleiman PM, Chiavacci R, Annaiah K, Thomas K, Hou C, ...
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New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.
... Copy neutral CNVs correspond to runs of homozygosity without any change in copy number. They might reflect uniparental isodisomy (UPiD) or autozygosity. UPiDs previously identified in BWS and SRS ...
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The role of copy-number variation in the reinforcement of sexual isolation between the two European subspecies of the house mouse
... a number of ...because copy-number variation alters locus homology between homologous chromosomes and therefore the nucleotide affinity upon which recombination ...
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A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3.
... Received: 17 November 2010 / Accepted: 27 January 2011 / Published online: 12 February 2011 # The Author(s) 2011. This article is published with open access at Springerlink.com Abstract Autism spectrum disorder is a ...
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TERT promoter status and gene copy number gains: effect on TERT expression and association with prognosis in breast cancer
... ZNF638, AGBL2, CFTR and POR) were co-amplified as controls. Primers and technical details are described in Supplementary Methods. The fluorescence intensities of PCR products were correlated with the copy ...
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Intratumoral distribution of EGFR mutations and copy number in metastatic lung cancer, what impact on the initial molecular diagnosis?
... EGFR copy number EGFR copy number was assessed by real time quantita- tive PCR using TaqMan® copy number ...TaqMan® Copy number reference assay RNase P was used as ...
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Copy-number and gene dependency analysis reveals partial copy loss of wild-type SF3B1 as a novel cancer vulnerability
... including copy number alterations, may also unveil novel cancer ...of copy-number associated gene dependency, even more frequent than amplification of oncogene-addicted driver ...
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