831 research outputs found

    The Statistics of Gene Mapping

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    Reconstructing DNA copy number by joint segmentation of multiple sequences

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    The variation in DNA copy number carries information on the modalities of genome evolution and misregulation of DNA replication in cancer cells; its study can be helpful to localize tumor suppressor genes, distinguish different populations of cancerous cell, as well identify genomic variations responsible for disease phenotypes. A number of different high throughput technologies can be used to identify copy number variable sites, and the literature documents multiple effective algorithms. We focus here on the specific problem of detecting regions where variation in copy number is relatively common in the sample at hand: this encompasses the cases of copy number polymorphisms, related samples, technical replicates, and cancerous sub-populations from the same individual. We present an algorithm based on regularization approaches with significant computational advantages and competitive accuracy. We illustrate its applicability with simulated and real data sets.Comment: 54 pages, 5 figure

    The role of nurses in working with a blind person in a hospital facility and satisfaction of blind person with nurse access

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    Blindness is a medical disorder that manifests itself in a partial or complete inability of the visual system to transmit stimuli. A blind person has to meet new challenges and one of the important preconditions for the independent living movement, as in people with visual impairment is one of the important problems. By the time a blind person finds himself in a new and unfamiliar area, and also has health problems and is a major problem. The role of nurses is very important and is often due to lack of education reduce the quality of assistance. The aim of the research was to investigate the satisfaction of blind patients quality nursing approach for hospital treatment and the role of health professionals in working with blind people. Anonymous questionnaire made for this study included 50 blind participants gathered around the Association of the Blind of Istria County who have stayed in hospitals. The survey was conducted anonymous questionnaire containing eleven questions, and the results indicate a greater need for training of health professionals in working with blind people during hospitalization in terms of taking necessary interventions conforming expressed needs of blind patients

    The Statistics of Gene Mapping

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