Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 12 of 12 for “"allelic imbalance"”.
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Haplotype-Informed Allelic Imbalance Detection From Rna In Cancer
… copy number alterations (SCNAs), which result in allelic imbalance, i.e., deviations from the expected 1-to-1 allelic ratios at heterozygous loci. We initially applied a native version of our method to 1,970 tumor samples from 7 sites in The Cancer Genome Atlas (TCGA), inferring genotypes directly …
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States of Allelic Imbalance on the X Chromosomes in Human Females
<p>Allelic imbalance, in which two alleles at a given locus exhibit differences in gene expression, chromatin composition and/or protein binding, is a widespread phenomenon in the human and other complex genomes. Most examples concern individual loci located more or less randomly around the genome …
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The role of heterodera glycines biotin synthase in the nematode-soybean interactions
… to enhance nematode parasitism. A recent allelic imbalance analysis identified two candidate virulence genes, which also appear to have entered the SCN genome through HGTs. One of the candidate genes, H. glycines biotin synthase (HgBioB), contained sequence polymorphisms between avirulent …
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Unleashing the potential of liquid biopsy: allele-informed evaluation of plasma samples for cancer patients management
… demonstrated high sensitivity in detecting BRCA2 allelic imbalance with decreasing tumor fractions resultant from treatment and identified complex ATM genomic states that may be incongruent with protein losses. As a step towards a more sensitive detection of tumor features in circulation of cancer …
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Gene polymorphisms in SLE
… p=1.46xlQ-8. Furthermore, I demonstrated an allelic imbalance in this SNP, with the protective G allele being expressed 1.5 times greater than the risk A allele, in controls. These data here demonstrated in this thesis indicates the importance of fine mapping candidate loci and verification …
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Clinical Significance of Homologous Recombination Deficiency Score Testing In Endometrial Cancer
… scores (loss of heterozygosity, telomeric allelic imbalance, and large-scale state transition) that quantitate genome rearrangement. Clinical records were obtained. HRD scores were also generated on a panel of established endometrial cancer cell lines and their in vivo growth and response …
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Utilizing Haplotypes For Sensitive Snp Array-Based Discovery of Somatic Chromosomal Mutations
… as a robust metric to measure evidence of allelic imbalance in the face of sporadic phasing errors in the statistical haplotype estimates and stochastic variation in the microarray data. In addition to presenting a hidden Markov model that uses the phase concordance data to perform agnostic …
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Characterisation of the EDD gene and its role in cancer.
… cancer, several cancer types were analysed for allelic gain or loss (allelic imbalance, AI) at the EDD locus. AI of the EDD locus was most frequent in the serous subtype of ovarian cancer (16/22, 73%) and common in other cancers, including breast cancer (31%). AI is likely to represent …
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Genomic Characterization of Polyps In Familial Adenomatous Polyposis Patients and Identification of Candidate Chemopreventive Drugs
… mutations, insertions, deletions and chromosomal allelic imbalance. In addition, we performed RNA sequencing of 8 polyps and 4 normal mucosa samples from the colon and small bowel of 2 additional FAP patients.</p> <p>Somatic <em>APC</em> truncating mutations and loss of chromosome 5q were …
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Mining common genetic Variants impacting on Allele-Specific Translation and cancer risk
… isotope-labeled peptides confirmed a pronounced imbalance favoring the alternative rs1554710467 EIF4H allele also at the protein levels. Cycloheximide chase experiments coupled to allele-specific proteomics revealed that the amino acid substitution does not impact protein stability. Sucrose …
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Computational Genomic Models For Spatio-Temporal Investigation of Early Lung Cancer Pathology
<p>Lung cancer, of which non-small cell lung cancer (NSCLC) is the most common form, is the second most prevalent cancer and the leading cause of cancer-related deaths. NSCLCs primarily comprise adenocarcinomas (LUAD) and squamous cell carcinomas (LUSC). Advances in early detection and prevention …
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Analysis of prognostic and drug resistance markers in lung cancer
… resistance in ovarian and breast cancers. Allelic imbalance (loss of heterozygosity) of chromosome 3p is common in lung cancer samples and the MLH1 gene locus resides here. This loss of heterozygosity (LOH) has been demonstrated to be a poor prognostic indicator in patients with primary …