Results for 'per family error rate'

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  1.  86
    Inconsistent multiple testing corrections: The fallacy of using family-based error rates to make inferences about individual hypotheses.Mark Rubin - 2024 - Methods in Psychology 10.
    During multiple testing, researchers often adjust their alpha level to control the familywise error rate for a statistical inference about a joint union alternative hypothesis (e.g., “H1,1 or H1,2”). However, in some cases, they do not make this inference. Instead, they make separate inferences about each of the individual hypotheses that comprise the joint hypothesis (e.g., H1,1 and H1,2). For example, a researcher might use a Bonferroni correction to adjust their alpha level from the conventional level of 0.050 (...)
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  2. Some facts.Birth Rate Per - 1965 - The Eugenics Review 56:53.
     
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  3.  42
    Family involvement in the end-of-life decisions of competent intensive care patients.Ranveig Lind, Per Nortvedt, Geir Lorem & Olav Hevrøy - 2013 - Nursing Ethics 20 (1):0969733012448969.
    In this article, we report the findings from a qualitative study that explored how relatives of terminally ill, alert and competent intensive care patients perceived their involvement in the end-of-life decision-making process. Eleven family members of six deceased patients were interviewed. Our findings reveal that relatives narrate about a strong intertwinement with the patient. They experienced the patients’ personal individuality as a fragile achievement. Therefore, they viewed their presence as crucial with their primary role to support and protect the (...)
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  4.  59
    Is the Precautionary Principle a Midlevel Principle?Per Sandin & Martin Peterson - 2019 - Ethics, Policy and Environment 22 (1):34-48.
    In this article, we defend two claims about the precautionary principle. The first is that there is no ‘core’ precautionary principle that unifies all its different versions. It is more plausible to think of the different versions as being related to each other by way of family resemblances. So although precautionary principle x may have much in common with precautionary principle y, and y with z, there is no set of necessary and sufficient conditions that unify all versions of (...)
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  5.  20
    Stuttering: A Disorder of Energy Supply to Neurons?Per A. Alm - 2021 - Frontiers in Human Neuroscience 15.
    Stuttering is a disorder characterized by intermittent loss of volitional control of speech movements. This hypothesis and theory article focuses on the proposal that stuttering may be related to an impairment of the energy supply to neurons. Findings from electroencephalography, brain imaging, genetics, and biochemistry are reviewed: Analyses of the EEG spectra at rest have repeatedly reported reduced power in the beta band, which is compatible with indications of reduced metabolism. Studies of the absolute level of regional cerebral blood flow (...)
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  6.  83
    The Persistence of Category Mistakes in Psychology.Per Holth - 2001 - Behavior and Philosophy 29:203 - 219.
    Gilbert Ryle's book The Concept of Mind was published in 1949. According to Ryle, his "destructive purpose" was to show that "a family of radical category mistakes" is the source of the "official doctrine," that is, a "double-life theory," according to which "with the doubtful exception of idiots and infants in arms every human being has both a body and a mind." By numerous examples, Ryle showed quite forcefully how psychology and philosophy at the time were misled into asking (...)
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  7.  22
    Medication Errors in Family Practice, in Hospitals and After Discharge from the Hospital An Ethical Analysis.Peter A. Clark - 2004 - Journal of Law, Medicine and Ethics 32 (2):349-357.
    The issue of death due to medical errors is not new. We have all heard horror stories about patients dying in the hospital because of a drug mix-up or a surgery patient having the wrong limb amputated. Most people believed these stories were the exception to the rule until November 1999, when the Institute of Medicine issued a report entitled To Err Is Human: Building A Safer Health System. This report focused on medical errors and patient safety in U.S. hospitals. (...)
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  8.  8
    Medication Errors in Family Practice, in Hospitals and after Discharge from the Hospital: An Ethical Analysis.Peter A. Clark - 2004 - Journal of Law, Medicine and Ethics 32 (2):349-357.
    The issue of death due to medical errors is not new. We have all heard horror stories about patients dying in the hospital because of a drug mix-up or a surgery patient having the wrong limb amputated. Most people believed these stories were the exception to the rule until November 1999, when the Institute of Medicine issued a report entitled To Err Is Human: Building A Safer Health System. This report focused on medical errors and patient safety in U.S. hospitals. (...)
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  9.  7
    Paperback publishing in Sweden: Forty years of trial and error.Per I. Gedin - 2003 - Logos. Anales Del Seminario de Metafísica [Universidad Complutense de Madrid, España] 14 (3):135-138.
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  10.  79
    Technological Know-How from Rules of Thumb.Per Norström - 2011 - Techné: Research in Philosophy and Technology 15 (2):96-109.
    Rules of thumb are simple instructions, used to guide actions toward a specific result, without need of advanced knowledge. Knowing adequate rules of thumb is a common form of technological knowledge. It differs both from science-based and intuitive (or tacit) technological knowledge, although it may have its origin in experience, scientific knowledge, trial and error, or a combination thereof. One of the major advantages of rules of thumb is the ease with which they can be learned. One of their (...)
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  11. Errata: Putting One's Foot in One's Head--Part I: Why.Donald Perlis - 1991 - Noûs 25 (5):776-776.
    The studies of mind and language have traditionally been linked to one another. Indeed, theories of reference have over time brought more and more mind into meaning. Here I argue that the links must be made far stronger still if we are to understand either. I offer some criticism of the causal-functionalist theories of reference on this ground, and present some ideas for improvements. The upshot will be that intentionality is largely internal and very real indeed, that it provides a (...)
     
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  12.  16
    Whose category error?Donald Perlis - 1983 - Behavioral and Brain Sciences 6 (4):606.
  13.  76
    Consciousness as self-function.Donald R. Perlis - 1997 - Journal of Consciousness Studies 4 (5-6):509-25.
    I argue that consciousness is an aspect of an agent's intelligence, hence of its ability to deal adaptively with the world. In particular, it allows for the possibility of noting and correcting the agent's errors, as actions performed by itself. This in turn requires a robust self-concept as part of the agent's world model; the appropriate notion of self here is a special one, allowing for a very strong kind of self-reference. It also requires the capability to come to see (...)
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  14.  31
    Sedation of Patients in Intensive Care Medicine and Nursing: ethical issues.Per Nortvedt, Gunnvald Kvarstein & Ingvild Jønland - 2005 - Nursing Ethics 12 (5):522-536.
    This article focuses on the ethical aspects of medically-induced sedation and pain relief in intensive care medicine. The study results reported are part of a larger investigation of patients’ experiences of being sedated and receiving pain relief, and also families’ experiences of having a close relative under controlled sedation in an intensive care unit. The study is based on qualitative in-depth interviews with nine nurses and six doctors working in intensive care and surgical units in a major Norwegian hospital. The (...)
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  15.  21
    A theorem on partial conservativity in arithmetic.Per Lindström - 2011 - Journal of Symbolic Logic 76 (1):341 - 347.
    Improving on a result of Arana, we construct an effective family (φ r | r ∈ ℚ ⋂ [0, 1]) of Σ n -conservative Π n sentences, increasing in strength as r decreases, with the property that ¬φ p is Π n -conservative over PA + φ q whenever p < q. We also construct a family of Σ n sentences with properties as above except that the roles of Σ n and Π n are reversed. The latter (...)
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  16.  43
    Bridging the gap between philosophers of mind and brain researchers: The example of addiction.C. Perring - 2011 - Mens Sana Monographs 9 (1):193.
    Philosophers and psychologists have long tried to understand people's irrational behaviour through concepts such as weakness of will, compulsion and addiction. The scientific basis of the project has been greatly enhanced by advances in cognitive psychology and neuroscience. However, some philosophers have also been critical of the more general conclusions drawn by the scientists. This is especially true when scientific researchers start making claims that go to philosophical issues, such as free will and responsibility. Conversely, some scientists have been critical (...)
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  17.  21
    Conceptualiser les troubles mentaux chez les enfants et les adolescents.Christian Perring - 2006 - Philosophiques 33 (1):65-79.
    J’explore de façon critique la supposition du DSM[1] et de théoriciens tels que Wakefield et Gert selon laquelle les troubles mentaux doivent être attribués à un individu plutôt qu’à un groupe de personnes. Cette supposition est particulièrement problématique en pédopsychiatrie où le système familial est très souvent au centre de l’attention clinique. Il y a bien sûr des éléments de preuve substantiels indiquant que certains troubles mentaux des individus sont causés par leurs relations avec les autres et que leur guérison (...)
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  18.  19
    Putting One's Foot in One's Head--Part I: Why.Donald Perlis - 1991 - Noûs 25 (4):435 - 455.
    The studies of mind and language have traditionally been linked to one another. Indeed, theories of reference (meaning, intentionality, content) have over time brought more and more mind into meaning. Here I argue that the links must be made far stronger still if we are to understand either. I offer some criticism of the causal-functionalist theories of reference on this ground, and present some ideas for improvements. The upshot will be that intentionality is largely internal and very real indeed, that (...)
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  19.  22
    A Re‐Evaluation of Story Grammars.Alan M. Frisch & Donald Perlis - 1981 - Cognitive Science 5 (1):79-86.
    Black and Wilensky (1979) have made serious methodological errors in analyzing story grammars, and in the process they have committed additional errors in applying formal language theory. Our arguments involve clarifying certain aspects of knowledge representation crucial to a proper treatment of story understanding.Particular criticisms focus on the following shortcomings of their presentation: 1) an erroneous statement from formal language theory, 2) misapplication of formal language theory to story grammars, 3) unsubstantiated and doubtful analogies with English grammar, 4) various non (...)
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  20.  22
    Access to Health Care in the Scandinavian Countries: Ethical Aspects.Sören Holm, Per-Erik Liss & Ole Frithjof Norheim - 1999 - Health Care Analysis 7 (4):321-330.
    The health care systems are fairly similar in theScandinavian countries. The exact details vary, but inall three countries the system is almost exclusivelypublicly funded through taxation, and most (or all)hospitals are also publicly owned and managed. Thecountries also have a fairly strong primary caresector (even though it varies between the countries),with family physicians to various degrees acting asgatekeepers to specialist services. In Denmark most ofthe GP services are free. For the patient in Norwayand Sweden there are out-of-pocket co-payments for (...)
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  21.  3
    A trained communication partner’s use of responsive strategies in aided communication with three adults with Rett syndrome: A case report.Helena Wandin, Per Lindberg & Karin Sonnander - 2022 - Frontiers in Psychology 13.
    PurposeTo explore and describe a trained communication partner’s use of responsive strategies in dyadic interaction with adults with Rett syndrome.IntroductionResponsive partner strategies facilitate social, communicative, and linguistic development. The common feature is that the communication partner responds contingently to the other’s focus of attention and interprets their acts as communicative. Research on responsive partner strategies that involves individuals with significant communication and motor disabilities remains sparse. The same applies to if, and how, the use of communication aids impacts on the (...)
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  22.  5
    Self-Compassion and Its Association With Ruminative Tendencies and Vagally Mediated Heart Rate Variability in Recurrent Major Depression.Julie Lillebostad Svendsen, Elisabeth Schanche, Jon Vøllestad, Endre Visted, Sebastian Jentschke, Anke Karl, Per-Einar Binder, Berge Osnes & Lin Sørensen - 2022 - Frontiers in Psychology 13.
    BackgroundRecurrent Major Depressive Disorder is one of the most disabling mental disorders in modern society. Prior research has shown that self-compassion protects against ruminative tendencies, a key feature of recurrent MDD. In addition, self-compassion has been found to be positively related to higher psychophysiological flexibility in young, healthy adults. To our knowledge, there is a lack of studies on how self-compassion relates to vmHRV in patients with recurrent MDD. The aim of the current study was to investigate whether higher self-compassion (...)
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  23.  19
    Developmental roles of platelet‐derived growth factors.Christer Betsholtz, Linda Karlsson & Per Lindahl - 2001 - Bioessays 23 (6):494-507.
    Platelet‐derived growth factor (PDGF) was originally identified in platelets and in serum as a mitogen for fibroblasts, smooth muscle cells (SMC) and glia cells in culture. PDGF has since expanded to a family of dimers of at least four gene products, whose biological actions are mediated through two receptor tyrosine kinases, PDGFRs. The present review summarizes and discusses the biological functions of PDGFs and PDGFRs in developmental processes, mainly as revealed through genetic analysis in mice. Such studies have demonstrated (...)
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  24.  12
    Restoration Skills Training in a Natural Setting Compared to Conventional Mindfulness Training: Sustained Advantages at a 6-Month Follow-Up.Freddie Lymeus, Mathew P. White, Per Lindberg & Terry Hartig - 2022 - Frontiers in Psychology 13.
    Restoration skills training is a mindfulness-based course in which participants draw support from a natural practice setting while they learn to meditate. Well-established conventional mindfulness training can improve psychological functioning but many perceive it as demanding and fail to sustain practice habits. Applying non-inferiority logic, previous research indicated that ReST overcomes compliance problems without compromising the benefits gained over 5 weeks’ training. This article applies similar logic in a 6-month follow-up. Of 97 contacted ReST and CMT course completers, 68 responded (...)
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  25.  71
    Investigating Tree Family Machine Learning Techniques for a Predictive System to Unveil Software Defects.Rashid Naseem, Bilal Khan, Arshad Ahmad, Ahmad Almogren, Saima Jabeen, Bashir Hayat & Muhammad Arif Shah - 2020 - Complexity 2020:1-21.
    Software defects prediction at the initial period of the software development life cycle remains a critical and important assignment. Defect prediction and correctness leads to the assurance of the quality of software systems and has remained integral to study in the previous years. The quick forecast of imperfect or defective modules in software development can serve the development squad to use the existing assets competently and effectively to provide remarkable software products in a given short timeline. Hitherto, several researchers have (...)
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  26.  6
    Integrative systemic and family therapy for social anxiety disorder: Manual and practice in a pilot randomized controlled trial.Christina Hunger-Schoppe, Jochen Schweitzer, Rebecca Hilzinger, Laura Krempel, Laura Deußer, Anja Sander, Hinrich Bents, Johannes Mander & Hans Lieb - 2022 - Frontiers in Psychology 13.
    Social anxiety disorders are among the most prevalent mental disorders, with high impact on the life of an affected social system and its individual social system members. We developed a manualized disorder-specific integrative systemic and family therapy for SAD, and evaluated its feasibility in a pilot randomized controlled trial. The ISFT is inspired by Helm Stierlin’s concept of related individuation developed during the early 1980s, which has since continued to be refined. It integrates solution-focused language, social network diagnostics, and (...)
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  27.  18
    Error Rates and Uncertainty Reduction in Rule Discovery.Emrah Aktunc - forthcoming - Review of Philosophy and Psychology.
    Three new versions of Wason’s 2-4-6 rule discovery task incorporating error rates or feedback of uncertainty reduction, inspired by the error-statistical account in philosophy of science, were employed. In experiments 1 and 2, participants were instructed that some experimenter feedback would be erroneous (control was original 2-4-6 without error). The results showed that performance was impaired when there was probabilistic error. In experiment 3, participants were given uncertainty reduction feedback as they generated different number triples and (...)
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  28. Differential impact of opt-in, opt-out policies on deceased organ donation rates: a mixed conceptual and empirical study.Alberto Molina-Pérez, David Rodríguez-Arias & Janet Delgado - 2022 - BMJ Open 12:e057107.
    Objectives To increase postmortem organ donation rates, several countries are adopting an opt-out (presumed consent) policy, meaning that individuals are deemed donors unless they expressly refused so. Although opt-out countries tend to have higher donation rates, there is no conclusive evidence that this is caused by the policy itself. The main objective of this study is to better assess the direct impact of consent policy defaults per se on deceased organ recovery rates when considering the role of the family (...)
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  29. The life and death of gene families.Jeffery P. Demuth & Matthew W. Hahn - 2009 - Bioessays 31 (1):29-39.
    One of the unique insights provided by the growing number of fully sequenced genomes is the pervasiveness of gene duplication and gene loss. Indeed, several metrics now suggest that rates of gene birth and death per gene are only 10–40% lower than nucleotide substitutions per site, and that per nucleotide, the consequent lineage‐specific expansion and contraction of gene families may play at least as large a role in adaptation as changes in orthologous sequences. While gene family evolution is pervasive, (...)
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  30.  25
    “Eat your Hamburger!”—“No, I don’t Want to!” Argumentation and Argumentative Development in the Context of Dinner Conversation in Twenty Swedish Families.Åsa Brumark - 2008 - Argumentation 22 (2):251-271.
    The aim of the present study was to analyse family dinners as context of argumentation and argumentative development by using a context-sensitive model of basic argumentative structures in every day conversations. The data consisted of 40 argumentative sequences in dinner conversations in twenty Swedish families with children aged 7 to 17 years. The families were divided in two groups depending on the children's ages (10–11 years with younger siblings and 10–12 years with older siblings). The model revealed characteristic structures (...)
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  31.  13
    Error Rates and Uncertainty Reduction in Rule Discovery.M. Emrah Aktunc, Ceren Hazar & Emre Baytimur - 2020 - Review of Philosophy and Psychology 12 (2):435-452.
    Three new versions of Wason’s 2-4-6 rule discovery task incorporating error rates or feedback of uncertainty reduction, inspired by the error-statistical account in philosophy of science, were employed. In experiments 1 and 2, participants were instructed that some experimenter feedback would be erroneous. The results showed that performance was impaired when there was probabilistic error. In experiment 3, participants were given uncertainty reduction feedback as they generated different number triples and the negative effects of probabilistic error (...)
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  32.  27
    Understanding Error Rates in Software Engineering: Conceptual, Empirical, and Experimental Approaches.Jack K. Horner & John Symons - 2019 - Philosophy and Technology 32 (2):363-378.
    Software-intensive systems are ubiquitous in the industrialized world. The reliability of software has implications for how we understand scientific knowledge produced using software-intensive systems and for our understanding of the ethical and political status of technology. The reliability of a software system is largely determined by the distribution of errors and by the consequences of those errors in the usage of that system. We select a taxonomy of software error types from the literature on empirically observed software errors and (...)
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  33. Type I error rates are not usually inflated.Mark Rubin - manuscript
    The inflation of Type I error rates is thought to be one of the causes of the replication crisis. Questionable research practices such as p-hacking are thought to inflate Type I error rates above their nominal level, leading to unexpectedly high levels of false positives in the literature and, consequently, unexpectedly low replication rates. In this article, I offer an alternative view. I argue that questionable and other research practices do not usually inflate relevant Type I error (...)
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  34.  7
    Psychometric properties of the Chinese version of quality of life in life-threatening illness-family carer version.Yitao Wei, Huimin Xiao, Hong Wu, Binbin Yong, Zhichao Weng & Weiling Chen - 2022 - Frontiers in Psychology 13.
    BackgroundThe Quality of Life in Life-threatening Illness-Family Carer Version has been proven to be a brief, reliable, and valid instrument for measuring the caregivers’ QOL in western cultures. However, whether it is suitable to be used in Chinese culture is unclear. This study aimed to test the reliability and validity of the Chinese version of.Materials and methodsA total of 202 family caregivers of advanced cancer patients from Fujian Provincial hospice care center were investigated using the Chinese version of (...)
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  35.  3
    The Error Rate in Biological Publication: A Preliminary Survey.John R. Sabine - 1985 - Science, Technology, and Human Values 10 (1):62-69.
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  36.  12
    Thank you for your lovely card: ethical considerations in responding to bereaved parents invited in error to participate in childhood cancer survivorship research.Claire E. Wakefield, Jordana K. McLoone, Leigh A. Donovan & Richard J. Cohn - 2015 - Medicine, Health Care and Philosophy 18 (1):113-119.
    Research exploring the needs of families of childhood cancer survivors is critical to improving the experiences of future families faced by this disease. However, there are numerous challenges in conducting research with this unique population, including a relatively high mortality rate. In recognition that research with cancer survivors is a relational activity, this article presents a series of cases of parents bereaved by childhood cancer who unintentionally received invitations to participate in survivorship research. We explore six ethical considerations, and (...)
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  37.  21
    Reaction time and error rates in the effect of stimulus probability on character classification: Addendum.Derek Besner & Max Coltheart - 1978 - Bulletin of the Psychonomic Society 12 (1):85-85.
  38. Do p values lose their meaning in exploratory analyses? It depends how you define the familywise error rate.Mark Rubin - 2017 - Review of General Psychology 21:269-275.
    Several researchers have recently argued that p values lose their meaning in exploratory analyses due to an unknown inflation of the alpha level (e.g., Nosek & Lakens, 2014; Wagenmakers, 2016). For this argument to be tenable, the familywise error rate must be defined in relation to the number of hypotheses that are tested in the same study or article. Under this conceptualization, the familywise error rate is usually unknowable in exploratory analyses because it is usually unclear (...)
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  39. On the need for attention-aware systems: Measuring effects of interruption on task performance, error rate, and affective state.Brian P. Bailey & Joseph A. Konstan - 2006 - Computers in Human Behavior 22 (4):685-708.
  40.  34
    Testing Theories of Transfer Using Error Rate Learning Curves.Kenneth R. Koedinger, Michael V. Yudelson & Philip I. Pavlik - 2016 - Topics in Cognitive Science 8 (3):589-609.
    We analyze naturally occurring datasets from student use of educational technologies to explore a long-standing question of the scope of transfer of learning. We contrast a faculty theory of broad transfer with a component theory of more constrained transfer. To test these theories, we develop statistical models of them. These models use latent variables to represent mental functions that are changed while learning to cause a reduction in error rates for new tasks. Strong versions of these models provide a (...)
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  41.  30
    Which words are hard to recognize? Prosodic, lexical, and disfluency factors that increase ASR error rates.Christopher D. Manning - unknown
    Many factors are thought to increase the chances of misrecognizing a word in ASR, including low frequency, nearby disfluencies, short duration, and being at the start of a turn. However, few of these factors have been formally examined. This paper analyzes a variety of lexical, prosodic, and disfluency factors to determine which are likely to increase ASR error rates. Findings include the following. (1) For disfluencies, effects depend on the type of disfluency: errors increase by up to 15% (absolute) (...)
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  42.  32
    Explaining black-box classifiers using post-hoc explanations-by-example: The effect of explanations and error-rates in XAI user studies.Eoin M. Kenny, Courtney Ford, Molly Quinn & Mark T. Keane - 2021 - Artificial Intelligence 294 (C):103459.
  43.  44
    Intransitive cycles: Rational choice or random error? An answer based on estimation of error rates with experimental data.Barry Sopher & Gary Gigliotti - 1993 - Theory and Decision 35 (3):311-336.
  44.  20
    Risks Seem Low While Climbing High: Shift in Risk Perception and Error Rates in the Course of Indoor Climbing Activities.Martina Raue, Ronnie Kolodziej, Eva Lermer & Bernhard Streicher - 2018 - Frontiers in Psychology 9.
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  45.  26
    Violation of the Sphericity Assumption and Its Effect on Type-I Error Rates in Repeated Measures ANOVA and Multi-Level Linear Models.Nicolas Haverkamp & André Beauducel - 2017 - Frontiers in Psychology 8.
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  46.  19
    Regularization and search for minimum error rate training.Christopher Manning - unknown
    method. It is shown that the stochastic method obtains test set gains of +0.98 BLEU on MT03.
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  47.  50
    Affective experience in the predictive mind: a review and new integrative account.Pablo Fernandez Velasco & Slawa Loev - 2020 - Synthese 198 (11):10847-10882.
    This paper aims to offer an account of affective experiences within Predictive Processing, a novel framework that considers the brain to be a dynamical, hierarchical, Bayesian hypothesis-testing mechanism. We begin by outlining a set of common features of affective experiences that a PP-theory should aim to explain: feelings are conscious, they have valence, they motivate behaviour, and they are intentional states with particular and formal objects. We then review existing theories of affective experiences within Predictive Processing and delineate two families (...)
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  48.  76
    Are per-incident rape-pregnancy rates higher than per-incident consensual pregnancy rates?Jonathan A. Gottschall & Tiffani A. Gottschall - 2003 - Human Nature 14 (1):1-20.
    Is a given instance of rape more likely to result in pregnancy than a given instance of consensual sex? This paper undertakes a review and critique of the literature on rape-pregnancy. Next, it presents our own estimation, from U.S. government data, of pregnancy rates for reproductive age victims of penile-vaginal rape. Using data on birth control usage from the Statisticalof the United States, we then form an estimate of rapepregnancy rates adjusted for the substantial number of women in our sample (...)
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  49.  6
    The Effect of Bilingualism on Cue-Based vs. Memory-Based Task Switching in Older Adults.Jennifer A. Rieker, José Manuel Reales & Soledad Ballesteros - 2020 - Frontiers in Human Neuroscience 14.
    Findings suggest a positive impact of bilingualism on cognition, including the later onset of dementia. However, it is not clear to what extent these effects are influenced by variations in attentional control demands in response to specific task requirements. In this study, 20 bilingual and 20 monolingual older adults performed a task-switching task under explicit task-cuing vs. memory-based switching conditions. In the cued condition, task switches occurred in random order and a visual cue signaled the next task to be performed. (...)
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  50.  14
    Revealing rate‐limiting steps in complex disease biology: The crucial importance of studying rare, extreme‐phenotype families.Aravinda Chakravarti & Tychele N. Turner - 2016 - Bioessays 38 (6):578-586.
    The major challenge in complex disease genetics is to understand the fundamental features of this complexity and why functional alterations at multiple independent genes conspire to lead to an abnormal phenotype. We hypothesize that the various genes involved are all functionally united through gene regulatory networks (GRN), and that mutant phenotypes arise from the consequent perturbation of one or more rate‐limiting steps that affect the function of the entire GRN. Understanding a complex phenotype thus entails unraveling the details of (...)
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