167 research outputs found

    Shrimp Stocking, Salmon Collapse, and Eagle Displacement

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    Women and postfertilization effects of birth control: consistency of beliefs, intentions and reported use

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    BACKGROUND: This study assesses the consistency of responses among women regarding their beliefs about the mechanisms of actions of birth control methods, beliefs about when human life begins, the intention to use or not use birth control methods that they believe may act after fertilization or implantation, and their reported use of specific methods. METHODS: A questionnaire was administered in family practice and obstetrics and gynecology clinics in Salt Lake City, Utah, and Tulsa, Oklahoma. Participants included women ages 18–50 presenting for any reason and women under age 18 presenting for family planning or pregnancy care. Analyses were based on key questions addressing beliefs about whether specific birth control methods may act after fertilization, beliefs about when human life begins, intention to use a method that may act after fertilization, and reported use of specific methods. The questionnaire contained no information about the mechanism of action of any method of birth control. Responses were considered inconsistent if actual use contradicted intentions, if one intention contradicted another, or if intentions contradicted beliefs. RESULTS: Of all respondents, 38% gave consistent responses about intention to not use or to stop use of any birth control method that acted after fertilization, while 4% gave inconsistent responses. The corresponding percentages for birth control methods that work after implantation were 64% consistent and 2% inconsistent. Of all respondents, 34% reported they believed that life begins at fertilization and would not use any birth control method that acts after fertilization (a consistent response), while 3% reported they believed that life begins at fertilization but would use a birth control method that acts after fertilization (inconsistent). For specific methods of birth control, less than 1% of women gave inconsistent responses. A majority of women (68% or greater) responded accurately about the mechanism of action of condoms, abstinence, sterilization, and abortion, but a substantial percentage of women (between 19% and 57%) were uncertain about the mechanisms of action of oral contraceptives, intrauterine devices (IUDs), Depo-Provera, or natural family planning. CONCLUSION: Women who believe that life begins at fertilization may not intend to use a birth control method that could have postfertilization effects. More research is needed to understand the relative importance of postfertilization effects for women in other populations, and in relation to other properties of and priorities for birth control methods. However, many women were uncertain about the mechanisms of action of specific methods. To respect the principles of informed consent, some women may need more education about what is known and not known about the mechanisms of action of birth control methods

    Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression

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    Associations between single nucleotide polymorphisms (SNPs) at 5p15 and multiple cancer types have been reported. We have previously shown evidence for a strong association between prostate cancer (PrCa) risk and rs2242652 at 5p15, intronic in the telomerase reverse transcriptase (TERT) gene that encodes TERT. To comprehensively evaluate the association between genetic variation across this region and PrCa, we performed a fine-mapping analysis by genotyping 134 SNPs using a custom Illumina iSelect array or Sequenom MassArray iPlex, followed by imputation of 1094 SNPs in 22 301 PrCa cases and 22 320 controls in The PRACTICAL consortium. Multiple stepwise logistic regression analysis identified four signals in the promoter or intronic regions of TERT that independently associated with PrCa risk. Gene expression analysis of normal prostate tissue showed evidence that SNPs within one of these regions also associated with TERT expression, providing a potential mechanism for predisposition to disease

    SeaWiFS Postlaunch Technical Report Series

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    This report documents the scientific activities on board the Royal Research Ship (RRS) James Clark Ross (JCR) during the fifth Atlantic Meridional Transect (AMT-5), 14 September to 17 October 1997. There are three objectives of the AMT Program. The first is to derive an improved understanding of the links between biogeochemical processes, biogenic gas exchange, air-sea interactions, and the effects on, and responses of, oceanic ecosystems to climate change. The second is to investigate the functional roles of biological particles and processes that influence ocean color in ecosystem dynamics. The Program relates directly to algorithm development and the validation of remotely-sensed observations of ocean color. Because the Sea-viewing Wide Field-of-view Sensor (SeaWiFS) instrument achieved operational status during the cruise (on 18 September), AMT-5 was designated the SeaWiFS Atlantic Characterization Experiment (SeaACE) and was the only major research cruise involved in the validation of SeaWiFS data during the first 100 days of operations. The third objective involved the near-real time reporting of in situ light and pigment observations to the SeaWiFS Project, so the performance of the satellite sensor could be determined

    Post hoc Analysis for Detecting Individual Rare Variant Risk Associations Using Probit Regression Bayesian Variable Selection Methods in Case-Control Sequencing Studies

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    Rare variants (RVs) have been shown to be significant contributors to complex disease risk. By definition, these variants have very low minor allele frequencies and traditional single-marker methods for statistical analysis are underpowered for typical sequencing study sample sizes. Multimarker burden-type approaches attempt to identify aggregation of RVs across case-control status by analyzing relatively small partitions of the genome, such as genes. However, it is generally the case that the aggregative measure would be a mixture of causal and neutral variants, and these omnibus tests do not directly provide any indication of which RVs may be driving a given association. Recently, Bayesian variable selection approaches have been proposed to identify RV associations from a large set of RVs under consideration. Although these approaches have been shown to be powerful at detecting associations at the RV level, there are often computational limitations on the total quantity of RVs under consideration and compromises are necessary for large-scale application. Here, we propose a computationally efficient alternative formulation of this method using a probit regression approach specifically capable of simultaneously analyzing hundreds to thousands of RVs. We evaluate our approach to detect causal variation on simulated data and examine sensitivity and specificity in instances of high RV dimensionality as well as apply it to pathway-level RV analysis results from a prostate cancer (PC) risk case-control sequencing study. Finally, we discuss potential extensions and future directions of this work

    Optical and Infrared Photometry of the Type Ia Supernovae 1991T, 1991bg, 1999ek, 2001bt, 2001cn, 2001cz, and 2002bo

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    We present optical and/or infrared photometry of the Type Ia supernovae SN 1991T, SN 1991bg, SN 1999ek, SN 2001bt, SN 2001cn, SN 2001cz, and SN 2002bo. All but one of these supernovae have decline rate parameters Delta m_15(B) close to the median value of 1.1 for the whole class of Type Ia supernovae. The addition of these supernovae to the relationship between the near-infrared absolute magnitudes and Delta m_15(B) strengthens the previous relationships we have found, in that the maximum light absolute magnitudes are essentially independent of the decline rate parameter. (SN 1991bg, the prototype of the subclass of fast declining Type Ia supernovae, is a special case.) The dispersion in the Hubble diagram in JHK is only ~0.15 mag. The near-infrared properties of Type Ia supernovae continue to be excellent measures of the luminosity distances to the supernova host galaxies, due to the need for only small corrections from the epoch of observation to maximum light, low dispersion in absolute magnitudes at maximum light, and the minimal reddening effects in the near-infrared.Comment: Astron. J., 128, 3034 (Dec. 2004). This version with updated author list, addresses, acknowledgments, reference

    REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

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    Supplemental Data Supplemental Data include one figure and five tables and can be found with this article online at http://dx.doi.org/10.1016/j.ajhg.2016.08.016. Supplemental Data Document S1. Figure S1 and Tables S1–S5 Download Document S2. Article plus Supplemental Data Download Web Resources ClinVar, https://www.ncbi.nlm.nih.gov/clinvar/ dbNSFP, https://sites.google.com/site/jpopgen/dbNSFP Human Gene Mutation Database, http://www.hgmd.cf.ac.uk/ REVEL, https://sites.google.com/site/revelgenomics/ SwissVar, http://swissvar.expasy.org/ The vast majority of coding variants are rare, and assessment of the contribution of rare variants to complex traits is hampered by low statistical power and limited functional data. Improved methods for predicting the pathogenicity of rare coding variants are needed to facilitate the discovery of disease variants from exome sequencing studies. We developed REVEL (rare exome variant ensemble learner), an ensemble method for predicting the pathogenicity of missense variants on the basis of individual tools: MutPred, FATHMM, VEST, PolyPhen, SIFT, PROVEAN, MutationAssessor, MutationTaster, LRT, GERP, SiPhy, phyloP, and phastCons. REVEL was trained with recently discovered pathogenic and rare neutral missense variants, excluding those previously used to train its constituent tools. When applied to two independent test sets, REVEL had the best overall performance (p < 10−12) as compared to any individual tool and seven ensemble methods: MetaSVM, MetaLR, KGGSeq, Condel, CADD, DANN, and Eigen. Importantly, REVEL also had the best performance for distinguishing pathogenic from rare neutral variants with allele frequencies <0.5%. The area under the receiver operating characteristic curve (AUC) for REVEL was 0.046–0.182 higher in an independent test set of 935 recent SwissVar disease variants and 123,935 putatively neutral exome sequencing variants and 0.027–0.143 higher in an independent test set of 1,953 pathogenic and 2,406 benign variants recently reported in ClinVar than the AUCs for other ensemble methods. We provide pre-computed REVEL scores for all possible human missense variants to facilitate the identification of pathogenic variants in the sea of rare variants discovered as sequencing studies expand in scale
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