structural variants
Human hypoxanthine guanine phosphoribosyltransferase Demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme
... exhibited structural and functional abnormalities that were similar to the recently described abnormalities found with the highly purified erythrocyte enzymes from these same ...of structural ...
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Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis
... most often achieved by PCR and multiplex ligation- dependent probe amplification (MLPA) of all 79 exons of DMD. Exonic sequence mutation analysis utilizes Sanger sequencing of PCR amplicons generated from each of the 79 ...
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Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants
... In silico driver gene prediction in larger patient cohorts Our candidate driver prioritization approach identified many candidate drivers in previously unresolved cases, but these complex cases may not be fully ...
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Integrated sequence and expression analysis of ovarian cancer structural variants underscores the importance of gene fusion regulation
... Additional file 2: Supplemental figures. Figure S1. Integrative data analysis workflow for structural variants. The upper workflow summarizes detection and validation of SVs using whole genome sequence ...
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Strategies for the detection of copy number and other structural variants in the human genome
... of structural variants have been accompanied by a host of newly developed technologies and methodologies, with many of these latest-generation techniques being cur- rently implemented and continually ...
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Strain-Dependent Structural Variants of Herpes Simplex Virus Type 1 ICP34.5 Determine Viral Plaque Size, Efficiency of Glycoprotein Processing, and Viral Release and Neuroinvasive Disease Potential
... Tissue culture behavior of a recombinant SLP10a virus with an SP7 ICP34.5 gene. A recombinant virus was constructed from SLP10a in which its KOS321-like ICP34.5 gene was re- placed with the SP7 ICP34.5 gene. SLP10a virus ...
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Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing
... Participant 3 (P3), a 66-year-old male, presented with a cone-rod dystrophy and hearing loss due to a homozy- gous deletion-inversion-deletion overlapping CEP78 (MIM: 617110). Onset was in his fifth decade with central ...
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Effects of molecular structural variants on serum Krebs von den Lungen 6 levels in sarcoidosis
... Comparison of serum KL-6 levels, serum/BALF KL-6 ratio, BALF albumin levels, number of lymphocytes and CD4 positive cells in BALF and serum soluble IL-2 receptor levels between non-leaka[r] ...
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Genomic exploration of sequential clinical isolates reveals a distinctive molecular signature of persistent Staphylococcus aureus bacteraemia
... of structural variants is based on short read data, we may have missed structural changes that can be usu- ally only detected by long-read sequencing, such as chromosomal ...
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The natural diversity and ecology of fission yeast
... 144 Further analysis with the same strain collection described structural variants 145 showing that they are both transient and contribute considerably to quantitative 146 traits and rep[r] ...
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Major influence of repetitive elements on disease-associated copy number variants (CNVs)
... pathogenic structural rearrangements associated with spastic paraplegia (OMIM ...of structural variants are known ...of structural rearrangements at the Alu-rich BRCA1 locus [29] which is ...
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Indel sensitive and comprehensive variant/mutation detection from RNA sequencing data for precision medicine
... nucleotide variants (SNVs), short insertions/de- letions (indels), or fusion ...important structural variants such as SNVs, indels or fusion transcripts, some of which are known actionable mutations ...
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Role of Copy Number Variants in Structural Birth Defects
... genomic structural variants in 150 patients with syndromic CHD of un- known cause via aCGH at 1-Mb resolu- tion. Forty-three aberrations were detected via this method, of which 26 were deemed to be ...
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Combinatorial Enzyme Approach to Produce Oligosaccharides of Diverse Structures for Functional Screen
... The central idea of combinatorial chemistry is to synthesize a diverse population of the molecule of interest and screen the population for the few variants that exhibit the desirable and useful property. A simple ...
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Human butyrylcholinesterase knock out equivalent: Potential to assess role in Alzheimer’s disease
... silent variants were con- structed to assess the possible loss of activity due to al- tered geometry of the binding ...the structural perturbation at the active ...four structural models of each ...
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Evaluating aggregate effects of rare and common variants in the 1000 Genomes Project exon sequencing data using latent variable structural equation modeling
... rare variants, using the multivariate statistical framework of structural equation modeling ...rare variants decreased false positives but increased false ...
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Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease
... filtered variants using two different settings: a cross-sample comparison at the gene level and a comparison at the exon ...by variants across the patients, in the second approach we also look for specific ...
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Structural studies of Helicase NS3 variants from Hepatitis C virus genotype 3 in virological sustained responder and non responder patients
... PROTEUS showed variation in the number of a-helix, beta-sheet and coil structures in all resistant patients (diagram I of additional file 1). The PROTPARAM analy- sis showed the substitutions in the protein ’ s amino ...
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Structural and mechanistic studies on E.coli porphobilinogen deaminase and mutant variants
... Figure 4.8 The M utant D84E Fourier Difference Electron Density 2Fn-2Fr.. To avoid biasing the structure, the modelled cofactor was om itted together w ith solvent and the aspartate-[r] ...
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Structural phase transitions in the Ag2Nb4O11 – Na2Nb4O11 solid solution
... Fig. 5 shows that this peak moves to lower temperatures as x increases. The mean onset values derived from these peaks for the corresponding R – M transition are given in Table 2. No relevant peak was observed in DSC for ...
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