26,176 research outputs found

    TESTING A METHODOLOGY FOR IDENTIFYING CLUSTERED ALLELE LOSS USING SNP ARRAY DATA

    Get PDF
    HumanHap550 Genotyping BeadChip provides a platform allowing for genotyping of single nucleotide polymorphisms (SNPs) greater than 550,000 loci. Such SNPs genotyping array technology makes it possible to identify genetic variation in individuals and across populations, profiling somatic mutations in cancer and loss of heterozygosity (LOH) events, amplifying deletions of regions of DNA, as well as possibly evaluating germline mutations in individuals. This study particularly focuses on analysis of clusters of Mendelian inconsistencies (MIs) in the SNPs array for six Russian radiation worker family trios, in order to identify the type of deletion variants for offspring such as inherited parental deletion variants (PDVs), spontaneous mutations (SMs) and germline mutations (GMs). By adapting the Bayesian theorem combining with the hereditary rule, this study presents an exciting result because 96.15% of genotypes in six selected clusters under the investigation could be identified as either PDVs or SMs/GMs, with two clusters are perfectly identified as SMs/GMs. This opens an avenue for further investigation of whether external environmental exposures (e.g., ionizing radiation) can effect the frequency of deletion variants (i.e., germline mutations) occurring in the offspring of highly exposed nuclear workers. While the applied methodology provides a practical means to recognize the genomic variations within the SNPs array some weaknesses of the study have been observed; particularly, the control group which consists of 112 individuals of Yoruba, Han Chinese, Japanese and Mormons is of deficiency on its sample size, diverse ethnicity and DNA process compared to the case group, and unclean potential hemizygous SNPs (i.e., Mendelian inconsistencies). Further statistical investigation and research needs to be conducted in order to overcome the weaknesses observed in the study; hence, the methodology introduced would be further of enhancement in its reliability and validity and it should be more effective when applied.Public health significance: The development of a reliable method to identify and count germline mutations in radiation workers could be generalized to exposures from any form of environmental mutagen (e.g., chemicals). Such a generalized marker could be used to measure the effects of various toxic environmental exposures on specific individuals and to predict genetically determined illness conditions

    Cache Equalizer: A Cache Pressure Aware Block Placement Scheme for Large-Scale Chip Multiprocessors

    Get PDF
    This paper describes Cache Equalizer (CE), a novel distributed cache management scheme for large scale chip multiprocessors (CMPs). Our work is motivated by large asymmetry in cache sets usages. CE decouples the physical locations of cache blocks from their addresses for the sake of reducing misses caused by destructive interferences. Temporal pressure at the on-chip last-level cache, is continuously collected at a group (comprised of cache sets) granularity, and periodically recorded at the memory controller to guide the placement process. An incoming block is consequently placed at a cache group that exhibits the minimum pressure. CE provides Quality of Service (QoS) by robustly offering better performance than the baseline shared NUCA cache. Simulation results using a full-system simulator demonstrate that CE outperforms shared NUCA caches by an average of 15.5% and by as much as 28.5% for the benchmark programs we examined. Furthermore, evaluations manifested the outperformance of CE versus related CMP cache designs

    The long reach of liver transplantation

    Get PDF

    Integrated Generation Management for Maximizing Renewable Resource Utilization

    Get PDF
    Two proposed methods to reduce the effective intermittency and improve the efficiency of wind power generation in the grid are spatial smoothing of wind generation and utilization of short term electrical storage to deal with lulls in production. In this thesis, based on a concept called integrated generation management (IGM), we explore the impact of spatial smoothing and the use of emerging plug-in hybrid electric vehicles (PHEVs) as a potential storage resource to the smart-grid. IGM combines nuclear, slow load-following coal, fast load-following natural gas, and renewable wind generation with an optimal control method to maximize the renewable generation and minimize the fossil generation. With the increasing penetration of PHEVs, the power grid is seeing new opportunities to make itself smarter than ever by utilizing those relatively large batteries. Based on current projections of PHEV market penetration and various wind generation scenarios, we demonstrate the potential for efficient wind integration at levels of approaching 30% of the aver- age electrical load with utilization efficiency exceeding 65%. At lower levels of integration (e.g. 15%), efficiencies are possible exceeding 85%

    Archivists and Historians: A View from the United States

    Get PDF
    Considers the debate about the relationship of history and archives and archivists by examining the mission of the archival profession, the nature of archival theory and knowledge, and, as a case study, the career of Lester J. Cappon (1900-1981) as both historian and archivist

    Transplantation of the small intestine: the pathologist's perspective.

    Get PDF
    Small-bowel transplantation is now ready for clinical trials. The surgical techniques and methods for immunosuppression and monitoring bowel status have been developed in animal models over the past 30 years. Several attempts at small-bowel transplantation in humans have already been reported. In the course of future trials, pathologists will be involved in the monitoring of the posttransplant course by mucosal biopsies and functional studies, including maltose and xylose absorption tests. The morphology of rejection has been studied in canine and rat models. Activated lymphocytes and plasma cells infiltrate the lamina propria and invade crypt epithelium, causing "cryptitis." Villous blunting ensues, resulting eventually in necrosis. Graft survival without immunosuppression is about 10 days. Under Cyclosporine immunosuppression, a lymphoplasmacytic infiltrate has been noted around nerves and vessels in the submucosa. The overlying mucosa may be relatively normal. End-stage bowel is characterized by a contracted, scarred mass. Due to the large amount of lymphoid tissue in the allograft, graft-versus-host disease is a significant problem in small-bowel transplantation

    Commentary on chapter by Klintmalm: Tacrolimus

    Get PDF

    The changing immunology of organ transplantation

    Get PDF
    The engrafted organ becomes a chimera as the recipient's leukocytes station themselves in the transplant. Remarkably, the recipient becomes chimeric as well, in a reverse migration involving immune cells from the graft. Interactions between donor and recipient cells are tolerogenic-a process with implications for the goal of graft acceptance with minimal immunosuppression
    corecore