Copy-number variants
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: ...
48
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 ...
9
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 ...
13
Detection of Copy Number Alterations Using Single Cell Sequencing
... 1. Kahlem, P., et al. Transcript Level Alterations Reflect Gene Dosage Effects Across Multiple Tissues in a Mouse Model of Down Syndrome. Genome Res. 14 (7), 1258-1267 (2004). 2. Torres, E. M., et al. Effects of ...
9
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, ...
46
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) ...
99
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 ...
15
TERT promoter status and gene copy number gains: effect on TERT expression and association with prognosis in breast cancer
... Previous studies yielded conflicting results regarding the effect of TERT gain on TERT mRNA expression. TERT gene gains were associated with higher TERT mRNA expression in non-small-cell lung adenocarcinoma and Merkell ...
13
Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth
... INTRODUCTION Overgrowth syndromes are a heterogeneous group of conditions characterized by either localized or generalized excessive growth for age and sex. Most overgrowth syndromes are associated with various ...
7
Intratumoral distribution of EGFR mutations and copy number in metastatic lung cancer, what impact on the initial molecular diagnosis?
... EGFR copy number was heterogeneous between different frag- ments from the same ...EGFR copy number and on the number of mutated allele in tumor ...increased copy number, ...
15
Aneuploid proliferation defects in yeast are not driven by copy number changes of a few dosage-sensitive genes
... one copy of the DSG[5] PRK1, the DSGs[10] TED1 and AXL2, and the DSG[20] GVP36 in disome IX ...in copy num- ber is most toxic are not solely responsible for the proliferation defect of cells harboring an ...
8
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] ...
177
Integrative genome-wide analysis reveals a robust genomic glioblastoma signature associated with copy number driving changes in gene expression.
... DNA copy number ...DNA copy number status (Pearson’s correlation coefficient up to ...the number of associated genes and p-value are ...
39
Articulatory copy synthesis from cine X-ray films
... Structure deforming along time and giving rise to a suffi- ciently salient contour, i.e. lips, larynx and epiglottis, have been tracked via the algorithm proposed by Berthommier and Fonte- cave [10]. Contours have been ...
6
A DNA target-enrichment approach to detect mutations, copy number changes and immunoglobulin translocations in multiple myeloma
... 41 Rashid NU, Sperling AS, Bolli N, Wedge DC, Van Loo P, Tai Y-T et al. Differential and limited expression of mutant alleles in multiple myeloma. Blood 2014; 124: 3110–3117. This work is licensed under a Creative ...
10
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 ...
139
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 ...
40
Chase Variants & Boundedness
... chase variants use triggers of increasing rank that are R-applicable to the current (ac- tive) ...chase variants with very different properties, as we can see in the above ta- ...
195
New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.
... iii) copy-neutral CNVs (runs of homozygosity) were considered as potentially pathogenic as losses and gains, as they might reflect segmental uniparental ...iv) variants that are seen in healthy individuals ...
42
Copy synthesis of phrase-level utterances
... A corpus of 11 eleven short phrase-level utterances have been copy-synthesized 1 and are summarized in Tab. II. They are chosen so that a large variety of French natural classes is represented. Unfortunately, the ...
6