2,757 research outputs found

    CCRaVAT and QuTie - enabling analysis of rare variants in large-scale case control and quantitative trait association studies

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    <p>Abstract</p> <p>Background</p> <p>Genome-wide association studies have been successful in finding common variants influencing common traits. However, these associations only account for a fraction of trait heritability. There has been a shift in the field towards studying low frequency and rare variants, which are now widely recognised as putative complex trait determinants. Despite this increasing focus on examining the role of low frequency and rare variants in complex disease susceptibility, there is a lack of user-friendly analytical packages implementing powerful association tests for the analysis of rare variants.</p> <p>Results</p> <p>We have developed two software tools, CCRaVAT (Case-Control Rare Variant Analysis Tool) and QuTie (Quantitative Trait), which enable efficient large-scale analysis of low frequency and rare variants. Both programs implement a collapsing method examining the accumulation of low frequency and rare variants across a locus of interest that has more power than single variant analysis. CCRaVAT carries out case-control analyses whereas QuTie has been developed for continuous trait analysis.</p> <p>Conclusions</p> <p>CCRaVAT and QuTie are easy to use software tools that allow users to perform genome-wide association analysis on low frequency and rare variants for both binary and quantitative traits. The software is freely available and provides the genetics community with a resource to perform association analysis on rarer genetic variants.</p

    The Ursinus Weekly, November 4, 1977

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    Communications conference • Union drops 13 • Alumni receive awards • Concert at Ursinus? • Founders Day held • S.F.A.R.C. meets • Comment: Ursinus and the real world • Letters to the editor • Ursinus and growth • Let\u27s get small • Kuster on the weather • The One acts • West Chester 4, Ursinus 1 • Soccer drops two • Football drops to 2-4 • 3 & 4 drive on!https://digitalcommons.ursinus.edu/weekly/1075/thumbnail.jp

    Planning Considerations Related to Collecting and Analyzing Samples of the Martian Soils

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    The Mars Sample Return (MSR) End-to-End International Science Analysis Group (E2E-iSAG [1]) established scientific objectives associ-ated with Mars returned-sample science that require the return and investigation of one or more soil samples. Soil is defined here as loose, unconsolidated materials with no implication for the presence or absence of or-ganic components. The proposed Mars 2020 (M-2020) rover is likely to collect and cache soil in addition to rock samples [2], which could be followed by future sample retrieval and return missions. Here we discuss key scientific consid-erations for sampling and caching soil samples on the proposed M-2020 rover, as well as the state in which samples would need to be preserved when received by analysts on Earth. We are seeking feedback on these draft plans as input to mission requirement formulation. A related planning exercise on rocks is reported in an accompanying abstract [3]

    The Ursinus Weekly, November 23, 1977

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    Ursinus News in Brief: U.S.G.A. threatens boycott petition; Cafeteria dinner affirmed; Jessup announces computer courses; Williamson nominates two; Four elected to task force; Ursinus appliance team • Vandalism to exceed \u2776 totals: President\u27s dining room vandalized • U.C. unaware of breakout: How safe is Ursinus? • Enrollments decrease • Five call for U.S.G.A. action • Comment • Letters to the editor • Movie attack: MacArthur • A view of Wismer • Burns debuts as deity • Sex and drugs • Medical credentials • Opinion: S.F.A.R.C. • Grizzly Gridiron closes at 2-7 • Women\u27s volleyball: Wrap-up • Soccer finale • 3 & 4 end season 9-1 • Varsity hockey • X-Country dominateshttps://digitalcommons.ursinus.edu/weekly/1077/thumbnail.jp

    The Ursinus Weekly, November 23, 1977

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    Ursinus News in Brief: U.S.G.A. threatens boycott petition; Cafeteria dinner affirmed; Jessup announces computer courses; Williamson nominates two; Four elected to task force; Ursinus appliance team • Vandalism to exceed \u2776 totals: President\u27s dining room vandalized • U.C. unaware of breakout: How safe is Ursinus? • Enrollments decrease • Five call for U.S.G.A. action • Comment • Letters to the editor • Movie attack: MacArthur • A view of Wismer • Burns debuts as deity • Sex and drugs • Medical credentials • Opinion: S.F.A.R.C. • Grizzly Gridiron closes at 2-7 • Women\u27s volleyball: Wrap-up • Soccer finale • 3 & 4 end season 9-1 • Varsity hockey • X-Country dominateshttps://digitalcommons.ursinus.edu/weekly/1077/thumbnail.jp

    The Ursinus Weekly, October 5, 1977

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    Ursinus news in brief: Ursinus changes dormitory hours; Student teachers assigned positions; Counseling services discussed; Library announces new hours; Sophomores hold road rally; ProTheatre news; Union calendar of events • Ursinus slated for evaluation • New faculty welcomed • Ursinus logs acceptances • U.S.G.A. announces plans • Comment: On editorial policy; Bomberger quaked • Evening School announces innovations • Letters to the editor • Danforth announces competition • Yost retires • Movie attack: The Deep • Elvis what happened? • Art and loneliness • Ottenberg speaks at Ursinus • Paisley to exhibit art works • New Zealand trip • Varsity soccer looks strong • Lack of consistency haunts Bears • Cross country undefeated • Hockey team opens seasonhttps://digitalcommons.ursinus.edu/weekly/1072/thumbnail.jp

    Population pharmacokinetics of artesunate and dihydroartemisinin in pregnant and non-pregnant women with malaria

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    <p>Abstract</p> <p>Background</p> <p>The World Health Organization endorses the use of artemisinin-based combination therapy for treatment of acute uncomplicated falciparum malaria in the second and third trimesters of pregnancy. However, the effects of pregnancy on the pharmacokinetics of artemisinin derivatives, such as artesunate (AS), are poorly understood. In this analysis, the population pharmacokinetics of oral AS, and its active metabolite dihydroartemisinin (DHA), were studied in pregnant and non-pregnant women at the Kingasani Maternity Clinic in the DRC.</p> <p>Methods</p> <p>Data were obtained from 26 pregnant women in the second (22 - 26 weeks) or the third (32 - 36 weeks) trimester of pregnancy and from 25 non-pregnant female controls. All subjects received 200 mg AS. Plasma AS and DHA were measured using a validated LC-MS method. Estimates for pharmacokinetic and variability parameters were obtained through nonlinear mixed effects modelling.</p> <p>Results</p> <p>A simultaneous parent-metabolite model was developed consisting of mixed zero-order, lagged first-order absorption of AS, a one-compartment model for AS, and a one-compartment model for DHA. Complete conversion of AS to DHA was assumed. The model displayed satisfactory goodness-of-fit, stability, and predictive ability. Apparent clearance (CL/F) and volume of distribution (V/F) estimates, with 95% bootstrap confidence intervals, were as follows: 195 L (139-285 L) for AS V/F, 895 L/h (788-1045 L/h) for AS CL/F, 91.4 L (78.5-109 L) for DHA V/F, and 64.0 L/h (55.1-75.2 L/h) for DHA CL/F. The effect of pregnancy on DHA CL/F was determined to be significant, with a pregnancy-associated increase in DHA CL/F of 42.3% (19.7 - 72.3%).</p> <p>Conclusions</p> <p>In this analysis, pharmacokinetic modelling suggests that pregnant women have accelerated DHA clearance compared to non-pregnant women receiving orally administered AS. These findings, in conjunction with a previous non-compartmental analysis of the modelled data, provide further evidence that higher AS doses would be required to maintain similar DHA levels in pregnant women as achieved in non-pregnant controls.</p
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