Genomic Rearrangements
Oxidative Stress of Burkholderia cenocepacia Induces Insertion Sequence Mediated Genomic Rearrangements That Interfere with Macrorestriction Based Genotyping
... from genomic rearrangements mediated by insertion sequences (IS); in addition, we determined whether stressful growth conditions altered the transposition activity of these ...
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Design and validation of an oligonucleotide microarray for the detection of genomic rearrangements associated with common hereditary cancer syndromes
... of genomic microarrays [14,15], which represent the integration of traditional and molecular cytogenetic techniques and enable the clinical diagnosis of chromosomal abnormalities at an unprecedented reso- ...from ...
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Genomic Rearrangements at rrn Operons in Salmonella
... large genomic rearrangements due to recombination at the ribosomal RNA (rrn) operons while the generalists consistently have a conserved chromosomal ...of rearrangements in ...chromosomal ...
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SyRI: finding genomic rearrangements and local sequence differences from whole genome assemblies
... complex genomic rearrange- ments, and they are commonly described as local sequence differences in comparison to a reference ...complex genomic rearrangements. For example, a translocation is a ...
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Simultaneous detection of BRCA mutations and large genomic rearrangements in germline DNA and FFPE tumor samples
... A comprehensive diagnostic workflow for BRCA1 and BRCA2 must include the ability of specific and accurate detection of large genomic rearrangements in these genes. It has already been demonstrated that ...
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Context-based FISH localization of genomic rearrangements within chromosome 15q11.2q13 duplicons
... recurrent genomic rearrangements flanked by ...duplicon genomic regions may prove useful in distinguishing rearrangements that appear to be similar in length based on array CGH analysis, which ...
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PVL overexpression due to genomic rearrangements and mutations in the S aureus reference strain ATCC25923
... sequencing. Genomic DNA was extracted by enzymatic lysis using the enzymes and buffers provided with the ...purified genomic DNA quanti- fied with a Qubit dsDNA BR (broad range; Thermofisher; ...
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Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH
... submicroscopic rearrangements by array-CGH has increased the diagnostic yield of pa- tients with ID/DD and/or MCA of 15-20% [3-5], due to array-CGH higher resolution ...overlooked rearrangements is still ...
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Characterization of Essential Genes by Parasexual Genetics in the Human Fungal Pathogen Aspergillus fumigatus: Impact of Genomic Rearrangements Associated With Electroporation of DNA
... the genomic sequences flanking both ends of ppyrG was sequenced (accession ...of genomic DNA flanking ppyrG in transformant 96 revealed that integration of ppyrG is actually associated with the deletion of ...
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A Mendelian Mutation Affecting Mating-Type Determination Also Affects Developmental Genomic Rearrangements in Paramecium tetraurelita
... Effect of the mtFE mutation on developmental rear- rangements: We have shown that the excision of an IES interrupting the coding sequence of the G surface antigen [r] ...
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Linked read sequencing resolves complex genomic rearrangements in gastric cancer metastases
... that genomic contiguity is ...the rearrangements. Our analysis identified cancer rearrangements even in the context of having lower fractions of tumor to normal ...
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Genomic Rearrangements in Arabidopsis Considered as Quantitative Traits
... Green: association of local haplotype with the SV trait unpaired reads at the source locus 15.94 – 15.95 Mb (indicated by the vertical red line), explaining 8.13% of the variance in germ[r] ...
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Resolving complex structural genomic rearrangements using a randomized approach
... complex rearrangements that were vali- dated with this approach to show convincing evidence for two, with inconclusive results for the third due to high degrees of repetitiveness in the region (Additional file 2: ...
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Mobile element insertions are frequent in oesophageal adenocarcinomas and can mislead paired end sequencing analysis
... find genomic rearrangements, we identified three ways in which new mobile element insertions appear in the data, resembling translocation or insertion junctions: inserts where unique sequence has been ...
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The Reflected-Shifted-Truncated-Gamma Distribution for Negatively Skewed Survival Data with Application to Pediatric Nephrotic Syndrome
... the rearrangements do not appear to be the result of recombination due to sequence similarity within the ...genome rearrangements most likely are the result of DNA repair caused by damage from an external ...
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Emerging functions of DNA transposases and oncogenic mutators in childhood cancer development
... of genomic rearrangements in childhood cancers is import- ant because these processes and molecules that mediate them may represent effective therapeutic targets, as suggested for PGBD5 ...oncogenic ...
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Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations
... large genomic rearrangements; ATM: ataxia tel‑ angiectasia mutaded gene; BARD1: BRCA1 associated ring domain 1; CHEK2: Checkpoint kinase 2; GSTs: glutathione S‑transferases; MTHFR: methylenetet‑ ...
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Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas
... variations, genomic rearrangements or 10q23 microdeletions encompassing the PTEN locus, have already been reported in several patients exhibiting syndromic features pathognomonic of PTEN hamartoma tumor ...
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Evolutionary significance and diversification of the phosphoglucose isomerase genes in vertebrates
... the genomic region harbouring PGI genes has independently undergone genomic rearrangements in mammals versus the reptile/bird lineage in particular, which may have contributed to the actual ...
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High Frequency and Diversity of Rearrangements in Polyomavirus BK Noncoding Regulatory Regions Cloned from Urine and Plasma of Israeli Renal Transplant Patients and Evidence for a New Genetic Subtype
... the genomic sequences of the NCRRs under conditions of sensitivity supposedly able to de- tect mixtures containing at least 5% of a minority ...NCRR rearrangements as well as with arche- typelike sequences, ...
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