Global ETD Search
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Showing 1 to 11 of 11 for “"Somatic Variation"”.
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Somatic variation, carcinogenesis and cancer risk in the lung
Somatic evolution is the driving force behind carcinogenesis, a principle recently underscored by discoveries in normal tissue. These discoveries have highlighted an underappreciated diversity of somatic mosaicism within every tissue and across individuals. Human tissue comprises thousands of …
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Omics Approaches to Uncover Germline and Somatic Variation Underlying Inherited Sarcomagenesis
… penetrance, suggesting additional acquired somatic mutations are necessary for tumorigenesis. In contrast, LFSL has no known cause, although a 10-Mb region in 1q23 has been mapped by linkage analysis as a putative LFSL locus. Therefore, to better identify genetic variation underlying LFS and …
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Host somatic variation between women living with HIV with cervical intraepitheial lesions (CIN3) and their HIV negative counterparts
… there are limited studies on the role of host somatic variations in HIV-positive and HIV-negative women on cervical cancer. Understanding these variations may help identify potential genetic factors that contribute to accelerated cervical cancer development and differential response to …
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Micropropagation of Begonia and a study of genome stability in Begonia rex
… vitro procedures for the expression of induced somatic variation. Colour variants produced from irradiation treatment have been cultured and prove stable. Polyploids produced as variants from irradiation treatment have been subcultured but prove unstable. Media for the induction and …
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Estudio del origen genético de la variedad de vid Garnacha Blanca, de su diversidad fenotípica y de los efectos moleculares asociados a la variación en el color de la uva
… varietal characteristic traits. In this way, somatic variation is the main source of genetic divsersity to improve traditional varieties either by clonal selection, or for the generation of new derivative varieties, like berry color variants. Garnacha Blanca (GB) is a white-berried variety …
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Decoding Brain Somatic Mosaicism with New Single-Cell Copy Number Analysis Methods
… represent a significant but understudied form of somatic variation in the human brain, with potential implications for neurodevelopment, aging and disease. While single-cell whole-genome sequencing (scWGS) enables genome-wide profiling at single-cell resolution, existing computational methods …
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Utilizing Haplotypes For Sensitive Snp Array-Based Discovery of Somatic Chromosomal Mutations
<p>Somatic copy-number (CN) gains and losses and copy-neutral loss of heterozygosity (CNLOH) frequently occur in tumors and play a major role in the progression of disease by altering gene dosage and unmasking deleterious recessive variants. Characterizing these mutations in an individual tumor …
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Analysis of variation in protein domain families and interfaces
… are the most frequent and basic type of genetic variation. The availability of over 110,000 three-dimensional protein structures allows the structural context of many SNPs to be examined in atomic detail. Interfaces are essential sites for protein function and adaptation, and key in a majority of …
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Variation-aware algorithms for cancer genome analysis
In this thesis, I explore variation-aware algorithms for analyzing cancer genomes. The scientific community has extensively catalogued millions of mutations present in cancer cells. This information is rarely used during read alignment and variant calling because of a lack of algorithms for doing …
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Analysis of genetic variation in Pediculus humanus and Populus trichocarpa
… sexually, might develop, through accumulation of somatic mutations, as genetic mosaics, providing the potential to respond to or even outrun their insect herbivores. The initial question to assess this hypothesis is: What is the level of somatic variation that exists with an individual tree and …
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Somatic microsatellite variability as a measure of DNA stability in cancer and DNA repair disorders
… 'hot-spots' and show a greater degree of somatic variability and population polymorphisms than surrounding DNA sequences. MSTs provide for a unique computational alignment problem for many commonly used algorithms, and therefore required software tools to be developed to specifically …