Copy number variants (CNVs)
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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CNVmap: a method and software to detect and map copy number variants from segregation data
... Ye K., M. H. Schulz, Q. Long, R. Apweiler, and Z. Ning, 2009 Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinformatics 25: ...
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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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Copy number variations in the gene space of Picea glauca
... Abstract Copy number variations (CNVs) are large genetic variations detected among the individuals of every multicellular organism examined so ...the copy number (CN) mutation rate (µ) ...
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Detection of Copy Number Alterations Using Single Cell Sequencing
... DNA copy number can range in size from several base pairs (copy number variants) (CNVs) to entire chromosomes ...(aneuploidy). Copy number alterations affecting large ...
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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
... structural variants in adaptation and speciation, we addressed the role of copy-number variation in the reinforcement of sexual isolation evidenced between the two European subspecies of the house ...
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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.
... Kathiresan S, Voight BF, Purcell S, Musunuru K, Ardissino D, Mannucci PM, Anand S, Engert JC, Samani NJ, Schunkert H, Erdmann J, Reilly MP, Rader DJ, Morgan T, Spertus JA, Stoll M, Girelli D, McKeown PP, Patterson CC, ...
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Intratumoral distribution of EGFR mutations and copy number in metastatic lung cancer, what impact on the initial molecular diagnosis?
... con- tent. Although our work cannot rule out the existence of minor wild type subclones, we believe that any sample al- lows accurate EGFR mutations detection at initial diagnos- tic. This fits the results of Yatabe et ...
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Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth
... chromosomal variants, we first took advantage of the Database of Genomic Variants (http:// ...exclude copy number variations (CNVs) previously observed in control ...
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TERT promoter status and gene copy number gains: effect on TERT expression and association with prognosis in breast cancer
... Telomerase reactivation and/or TERT upregulation correlate with MYC overexpression [35, 36]. In line with these findings, we observed that MYC and TERT expression levels are significantly correlated. MYC is a primary ...
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Integrative genome-wide analysis reveals a robust genomic glioblastoma signature associated with copy number driving changes in gene expression.
... uniform copy number segment boundaries and by replacing normalized log 2 ratio for each probe by the calculated smoothing ...low-copy number gain and hemizygous deletion were set at ...
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Delineation of the molecular mechanisms underlying DNA replication initiation and changes in gene copy number during Drosophila development
... Drosophila polyploid cells, and in several larval tissues, defined eukaryotic genomic regions are underreplicated relative to overall ploidy of the cell. Additionally in the [r] ...
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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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A DNA target-enrichment approach to detect mutations, copy number changes and immunoglobulin translocations in multiple myeloma
... of variants in the cohort. (a) Variants in genes hit at least twice in the study are reported based on the type of mutation (missense in green, truncating in red and indel in blue) and based on the tissue ...
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Étude des performances d'une technologie de séquençage haut débit pangénomique pour la détection des copy number variations : comparaison avec l'analyse chromosomique sur puce à ADN
... de variants VCF Annotation Alissa Interpret Tableau 5: étapes successives du traitement bio-informatique des données de NGS Les données brutes du séquençage sont obtenues en format binaire ayant une extension ...
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Gene dosage compensation of rRNA transcript levels in Arabidopsis thaliana lines with reduced ribosomal gene copy number
... large number of smaller tandem duplications across the genome, which were not found in our LCN ...rDNA copy number dependent fragile sites) which might be crucial for genomic structural integrity and ...
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Creating Single-Copy Genetic Circuits
... and number), post-transcriptional control (5 ′ untranslated region (UTR)), and translational control (ribosome binding site (RBS) ...multi- copy gene circuits into functional single-copy circuits, ...
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Chase Variants & Boundedness
... Chase variants and strength of ...a number of elaborate examples, even from E- and C-chase, when the demand to perform all rule applications of a certain rank before con- tinuing to the next rank, prevented ...
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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.
... Discussion Recent modifications to SNP arrays enhance the opportunity to discover CNVs along with concomitant SNP genotypes. We designed a custom SNP array to target the analysis to the 11p15 region including the two ...
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Copy synthesis of phrase-level utterances
... Index Terms: Copy synthesis, Coordination, Glottal chink, Vocal folds I. I NTRODUCTION The different methods for synthesizing human speech may be classified along an axis going from fully signal-based meth- ods, ...
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