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chromosome copy-number variation

CNVmap: a method and software to detect and map copy number variants from segregation data

CNVmap: a method and software to detect and map copy number variants from segregation data

... Choulet F., A. Alberti, S. Theil, N. Glover, V. Barbe, et al., 2014 Structural and functional partitioning of bread wheat chromosome 3B. Science 345: 1249721. https://doi.org/10.1126/science.1249721 Colella S., ...

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Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

... exclude copy number variations (CNVs) previously observed in control ...Ten chromosome gains or losses detected in nine patients were thereby considered as being possibly pathogenic and were ...

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Assessment of megabase-scale somatic copy number variation using single-cell sequencing

Assessment of megabase-scale somatic copy number variation using single-cell sequencing

... quantify variation in read depth across the genome and identify cells suitable for analysis, we previously calculated a vari- ability score (VS) for each cell (Knouse et ...each chromosome and averaging the ...

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Adaptation by copy number variation increases insecticide resistance in the fall armyworm

Adaptation by copy number variation increases insecticide resistance in the fall armyworm

... from the CNVs of detoxification genes while these CNVs are not specific to strains, then the adaptive role of CNVs in insecticide resistance would be supported. Alternatively, if all identified positive selection by CNVs is ...

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Adaptation by copy number variation increases insecticide resistance in fall armyworms

Adaptation by copy number variation increases insecticide resistance in fall armyworms

... Z chromosome and mitochondrial genomes are inherited from different strains in ...Z chromosome in the assembly, and we observed only a single blast-hit, at Scaffold ...Z chromosome has higher Fst ...

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Large scale variation in DNA copy number in chicken breeds.

Large scale variation in DNA copy number in chicken breeds.

... of variation and its influence on pheno- typic variation, the reference genome assembly should be near completion and more individual genomes need to be sequenced for the species of ...

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A DNA target-enrichment approach to detect mutations, copy number changes and immunoglobulin translocations in multiple myeloma

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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Une "copy-party" en bibliothèque

Une "copy-party" en bibliothèque

... d'une copy-party en bibliothèque firent souvent valoir cet argument ...la Copy Party peuvent l’être à titre gratuit, cela ne signifie pas néanmoins que l’exception de copie privée en elle-même soit ...La ...

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Gene dosage compensation of rRNA transcript levels in Arabidopsis thaliana lines with reduced ribosomal gene copy number

Gene dosage compensation of rRNA transcript levels in Arabidopsis thaliana lines with reduced ribosomal gene copy number

... the number of genes belonging to that bin in the up/down lists was statistically higher than expected from the background, using a two-tailed Fisher’s exact test and adjusted for multiple testing using ...

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Comparative Oncogenomic Analysis of Copy Number Alterations in Human and Zebrafish Tumors Enables Cancer Driver Discovery

Comparative Oncogenomic Analysis of Copy Number Alterations in Human and Zebrafish Tumors Enables Cancer Driver Discovery

... of chromosome 25, large-scale CNAs showed modest amplitudes, which is similar to findings in most human solid tumors ...common copy number breakpoints in the chromosomal region that contains each ...

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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

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

... Figure 8: représentation schématique des notions de profondeur et de couverture de séquençage. Chaque flèche bleue représente une lecture du brin forward, chaque flèche rouge représente une lecture du brin reverse. ...

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Detection of copy number variations from NGS data using read depth information: a diagnostic performance evaluation

Detection of copy number variations from NGS data using read depth information: a diagnostic performance evaluation

... L’archive ouverte pluridisciplinaire HAL, est destinée au dépôt et à la diffusion de documents scientifiques de niveau recherche, publiés ou non, émanant des établissements d’enseignement et de recherche français ou ...

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Chemical Composition, Antimicrobial Activity and Chromosome  Number of  Senecio giganteus  D esf .  from Algeria

Chemical Composition, Antimicrobial Activity and Chromosome Number of Senecio giganteus D esf . from Algeria

... Caryology For karyotypic analysis, the squashing method is used. The root-tip meristems of from germinating seeds were usually used for chromosome preparations. A pre- treatment at room temperature for 1.5 hours ...

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Sperm size and number variation in the red flour beetle

Sperm size and number variation in the red flour beetle

... and number in the bulb mite Rhizoglyphus Aprille & Lewis, 1998; Lewis & Jutiewicz, 1998; Hau- robini Clapare`de, although the relative size of the bruge et ...sperm number in T. castaneum. males to ...

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BIC-seq: a fast algorithm for detection of copy number alterations based on high-throughput sequencing data

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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Tfam Knockdown Results in Reduction of mtDNA Copy Number, OXPHOS Deficiency and Abnormalities in Zebrafish Embryos

Tfam Knockdown Results in Reduction of mtDNA Copy Number, OXPHOS Deficiency and Abnormalities in Zebrafish Embryos

... mtDNA copy number and subsequent mitochondrial dysfunction appears to result in enrichment of GO terms related to rRNA synthesis, ncRNA processing, and ribosomal assembly (Table 1), and the vast majority of ...

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Creating Single-Copy Genetic Circuits

Creating Single-Copy Genetic Circuits

... RESULTS AND DISCUSSION Conversion of the multi-copy toggle switch to single-copy To identify the design parameters important for single-copy genetic circuit conversion, we chose to study a ...

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Integrative genome-wide analysis reveals a robust genomic glioblastoma signature associated with copy number driving changes in gene expression.

Integrative genome-wide analysis reveals a robust genomic glioblastoma signature associated with copy number driving changes in gene expression.

... modifications in glioblastomas. Even though gene expression was affected in almost all tumors, it was not related to CNAs in all glioblastomas. The homogeneous transcriptome signature must involve other regulatory ...

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A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3.

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3.

... Acknowledgements Funding for this work was from the Nancy Lurie Marks Family Foundation, the Simons Foundation, Autistica and the Wellcome Trust (core award, grant number 075491/Z/04). BAC and fosmid clones were ...

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Replication Errors Made During Oogenesis Lead to Detectable De Novo mtDNA Mutations in Zebrafish Oocytes with a Low mtDNA Copy Number.

Replication Errors Made During Oogenesis Lead to Detectable De Novo mtDNA Mutations in Zebrafish Oocytes with a Low mtDNA Copy Number.

... See discussions, stats, and author profiles for this publication at: https://www.researchgate.net/publication/309367650 Replication Errors Made During Oogenesis Lead to Detectable De Nov[r] ...

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