共查询到20条相似文献,搜索用时 15 毫秒
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Sequencing studies have been discovering a numerous number of rare variants, allowing the identification of the effects of rare variants on disease susceptibility. As a method to increase the statistical power of studies on rare variants, several groupwise association tests that group rare variants in genes and detect associations between genes and diseases have been proposed. One major challenge in these methods is to determine which variants are causal in a group, and to overcome this challenge, previous methods used prior information that specifies how likely each variant is causal. Another source of information that can be used to determine causal variants is the observed data because case individuals are likely to have more causal variants than control individuals. In this article, we introduce a likelihood ratio test (LRT) that uses both data and prior information to infer which variants are causal and uses this finding to determine whether a group of variants is involved in a disease. We demonstrate through simulations that LRT achieves higher power than previous methods. We also evaluate our method on mutation screening data of the susceptibility gene for ataxia telangiectasia, and show that LRT can detect an association in real data. To increase the computational speed of our method, we show how we can decompose the computation of LRT, and propose an efficient permutation test. With this optimization, we can efficiently compute an LRT statistic and its significance at a genome-wide level. The software for our method is publicly available at http://genetics.cs.ucla.edu/rarevariants . 相似文献
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NOWAK J MARKIEWICZ M SMARSZ C 《Polski tygodnik lekarski (Warsaw, Poland : 1960)》1956,11(43):1824-1827
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T Krygier 《Polski tygodnik lekarski (Warsaw, Poland : 1960)》1971,26(35):1349-1351
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The long-term two-bottle choice test is commonly used as a simple screen to examine the acceptance of taste solutions by rodents. As part of an investigation of factors influencing the sensitivity of the two-bottle choice test, we determined the extent to which test duration influenced test sensitivity. C57BL6/J and 129X1/SvJ mice received four series of eight two-bottle tests, with each test lasting 1, 2, 4 or 6 days. Each series involved sequential tests with water, 2 mM saccharin, 5 and 50 mM citric acid, 30 and 300 micro M quinine hydrochloride, 75 mM NaCl and 10% ethanol. There were significant differences between the strains in intake of saccharin, 5 and 50 mM citric acid, NaCl and ethanol in 4 and 6 day tests, but only saccharin and ethanol in 2 day tests, and 5 mM citric acid and ethanol in 1 day tests. To compare the sensitivity of the tests, we developed an analytical approach based on the comparison of deviations of individual 129X1/SvJ mice from the C57BL6/J strain mean. Our results suggest that to discriminate between strains or treatments when using 'standard' laboratory conditions and methods, 1 day tests are generally inadequate and 2 day tests are useful only if large effects are anticipated. Tests lasting 4 or 6 days are more sensitive, but conducting 6 day tests provides little additional benefit and sometimes is detrimental relative to conducting 4 day tests. 相似文献
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Biochemically and morphologically defined isolates ofCandida spp. were tested for their susceptibility to systemic antimycotics (5-flucytosine, ketoconazole, and miconazole). Three different susceptibility test techniques—the broth disc elution test, the agar dilution test, and the broth dilution test—were examined. The different assays were correlated with the broth dilution test at breakpoint concentrations. Reliability and practicability of the test systems described here were good, and the agreement with the broth dilution test was excellent. The elution test seems to be a valuable method for smaller laboratories, whereas the agar dilution test with antimycotic tablets is a particularly and comparatively inexpensive test for laboratories handling larger numbers of specimens. 相似文献
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Bertuzzi R Franchini E Tricoli V Lima-Silva AE De Oliveira Pires F Okuno NM Kiss MA 《Journal of strength and conditioning research / National Strength & Conditioning Association》2012,26(6):1558-1563
The aim of this study was to develop an indoor rock-climbing test on an artificial wall (Fit-climbing test). Thirteen climbers (elite group [EG] = 6; recreational group [RG] = 7) performed the following tests: (a) familiarization in the Fit-climbing test, (b) the Fit-climbing test, and (c) a retest to evaluate the Fit-climbing test's reliability. Gas exchange, blood lactate concentration, handgrip strength, and heart rate were measured during the test. Oxygen uptake during the Fit-climbing test was not different between groups (EG = 8.4 ± 1.1 L; RG = 7.9 ± 1.5 L, p > 0.05). The EG performance (120 ± 7 movements) was statistically higher than the RG climbers' performance (78 ± 13 movements) during the Fit-climbing test. Consequently, the oxygen cost per movement during the Fit-climbing test of the EG was significantly lower than that of the RG (p < 0.05). Handgrip strength was higher in the EG when compared with that in the RG in both pre-Fit- and post-Fit-climbing test (p < 0.05). There were no significant differences in any other variables analyzed during the Fit-climbing test (p > 0.05). Furthermore, the performance in the Fit-climbing test presented high reliability (intraclass correlation coefficient = 0.97). Therefore, the performance during the Fit-climbing test may be an alternative to evaluate rock climbers because of its specificity and relation to oxygen cost per movement during climbing. 相似文献
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