[PDF] Top 20 Genomic copy number variation analysis in multiple system atrophy
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Genomic copy number variation analysis in multiple system atrophy
... by analysis of CNVs contained in exonic regions, with the functional categories significantly related to cell attachment and immune ...via analysis of CNVs contained in intronic re- gions; these were ... See full document
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Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders
... cently, multiple reports have described cases with mutations affecting HNRNPU demonstrating its role in NDDs, includ- ing severe intellectual disability and early onset seizures (Bramswig et ...ʹ genomic ... See full document
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Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism
... Only autosomal CNVs were called and analyzed in our study, which may have led us to miss associated CNVs on the X or Y chromosome. The significant genes in our meta-analysis with CNVs that also passed QC in both ... See full document
8
Genome-Wide Analysis of DNA Copy Number Changes in Liver Steatosis
... the copy number of detoxification genes have been related to liver pathology, included cancer development or ...using genomic DNA from liver tissue and blood of all patients, except one whose blood ... See full document
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Genomic Characterization and Copy Number Variation of Bacillus anthracis Plasmids pXO1 and pXO2 in a Historical Collection of 412 Strains
... further analysis showed that the topological differences mentioned above were predominantly due to recombination and/or varied selection pressures only in genes encoding five prod- ucts (OG20, a hypothetical ... See full document
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Analysis of COQ2gene in multiple system atrophy
... and copy number assay In this study, our sequence analysis of COQ2 in 155 MSA patients identified eleven variants including one intronic, six synonymous, three non-synonymous and one nonsense ... See full document
9
Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders
... CNV: Copy number variation; GAIN: Genetic Association Information Network; GCWF: GC base pair wave factor; GEF: Guanine nucleotide exchange factor; GWAS: Genome- wide association studies; KANK1: KN ... See full document
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Genomic Approaches to Understanding Variable Expressivity in Alagille Syndrome and Genetic Susceptibility to Biliary Atresia
... used genomic tools including genome-wide gene expression analysis, genome-wide association (GWA) studies of single nucleotide polymorphisms (SNPs) and copy number variation (CNVs), and ... See full document
216
A survey of analysis software for array-comparative genomic hybridisation studies to detect copy number variation
... for analysis and visualisation of aCGH data and includes several of the packages in ...a number of web-based applications, such as ADaCGH 26 and ISACGH, 27 for viewing and com- paring outputs from ... See full document
7
Francisella tularensis Strain Typing Using Multiple Locus, Variable Number Tandem Repeat Analysis
... tularensis genomic sequence for potential variable-number tandem repeats (VNTRs), we developed a multilocus VNTR analysis (MLVA) typing system for this ...pathogen. Variation was ... See full document
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Copy number variation analysis increases the diagnostic yield in muscle diseases
... Methods: Four publicly available bioinformatic analytic tools were used to analyze CNVs from sequencing data from patients with muscle diseases. The patients were previously analyzed with a targeted gene panel for single ... See full document
6
Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia
... A number of investigators have utilized chromo- somal microarrays (CMAs) in MRKH either by com- parative genomic hybridization (CGH) and/or single nucleotide polymorphism (SNP) techniques [16 – ...Reported ... See full document
8
Copy number variation in the Framingham Heart Study
... phenotypic variation is even less well developed. While we hope the analysis presented in this paper is a useful step forward in this area, it merely scratches the surface of what is likely to be an ... See full document
6
An array CGH based genomic instability index (G2I) is predictive of clinical outcome in breast cancer and reveals a subset of tumors without lymph node involvement but with poor prognosis
... The ability of gene signatures from bulk tumors to predict metastatic relapse is difficult to reconcile with the model putting forward that rare tumor stem cells mediate metastasis [14]. It is necessary to conceive that ... See full document
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Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease
... large number of healthy individuals, and (iii) the segregation of the CNV in the family, for example, de novo imbalances are consid- ered to be likely pathogenic whereas those inherited from an apparently healthy ... See full document
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Rotigotine is safe and efficacious in Atypical Parkinsonism Syndromes induced by both a-synucleinopathy and tauopathy
... Although efficacy and systemic tolerability were similar for transdermal RTG and oral pramipexole and ropinirole, transdermal drug delivery could still offer several important benefits for the treatment of patients with ... See full document
7
Somatic Copy Number Mosaicism Contributes to Genomic Diversity in Mus musculus
... Of the three methods used to detect putative CNVs in this study, ConsecN appears to be the outlier. Although genotyping calls have previously been used to infer copy number dele- tions, 10,183 these ... See full document
218
Identification of genomic copy number variations associated with specific clinical features of head and neck cancer
... [20]. Copy number gain of the PIK3CA region has been documented to be important in HNSCC, but the reported finding [21] is somewhat contradictory to our results because it conferred poor survival to meta- ... See full document
9
Diagnostic challenges in multiple system atrophy
... of both cerebral hemispheres was noted, which was especially pronounced in the middle and posterior part of the left frontal lobe. Small areas of hypometabolism were also present in the left lateral part of the temporal ... See full document
6
Robust genomic copy number predictor of pan cancer metastasis
... A second prostate cancer cohort, comprised of 25 mPTs along with 157 iPTs was collected at Memorial Sloan-Kettering Cancer Center (MSK cohort - Supplementary Table 7A). The collection, extraction and data generation for ... See full document
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