231 research outputs found
Interval-type and affine arithmetic-type techniques for handling uncertainty in expert systems
AbstractExpert knowledge consists of statements Sj (facts and rules). The facts and rules are often only true with some probability. For example, if we are interested in oil, we should look at seismic data. If in 90% of the cases, the seismic data were indeed helpful in locating oil, then we can say that if we are interested in oil, then with probability 90% it is helpful to look at the seismic data. In more formal terms, we can say that the implication “if oil then seismic” holds with probability 90%. Another example: a bank A trusts a client B, so if we trust the bank A, we should trust B too; if statistically this trust was justified in 99% of the cases, we can conclude that the corresponding implication holds with probability 99%.If a query Q is deducible from facts and rules, what is the resulting probability p(Q) in Q? We can describe the truth of Q as a propositional formula F in terms of Sj, i.e., as a combination of statements Sj linked by operators like &, ∨, and ¬; computing p(Q) exactly is NP-hard, so heuristics are needed.Traditionally, expert systems use technique similar to straightforward interval computations: we parse F and replace each computation step with corresponding probability operation. Problem: at each step, we ignore the dependence between the intermediate results Fj; hence intervals are too wide. Example: the estimate for P(A∨¬A) is not 1. Solution: similar to affine arithmetic, besides P(Fj), we also compute P(Fj&Fi) (or P(Fj1&⋯&Fjd)), and on each step, use all combinations of l such probabilities to get new estimates. Results: e.g., P(A∨¬A) is estimated as 1
Causality and the semantics of provenance
Provenance, or information about the sources, derivation, custody or history
of data, has been studied recently in a number of contexts, including
databases, scientific workflows and the Semantic Web. Many provenance
mechanisms have been developed, motivated by informal notions such as
influence, dependence, explanation and causality. However, there has been
little study of whether these mechanisms formally satisfy appropriate policies
or even how to formalize relevant motivating concepts such as causality. We
contend that mathematical models of these concepts are needed to justify and
compare provenance techniques. In this paper we review a theory of causality
based on structural models that has been developed in artificial intelligence,
and describe work in progress on a causal semantics for provenance graphs.Comment: Workshop submissio
Development and validation of a dynamic material flow analysis model for French copper cycle
This study performs a quantitative description of the copper life cycle at the scale of France from 2000 to 2009 with special focus on waste streams. The approach is based on substance flow analysis and includes data reconciliation. The model takes into account the relationships between economic system, resource consumption, product manufacturing, waste generation and pollution, thus broadening the traditional scope of process systems engineering. The more important results concern waste management since France exports most of its collected copper wastes because there is no industry for recycling low-grade scrap. The paper shows the interest of using substance flow analysis methodology coupled with data reconciliation to obtain a precise cartography of a substance flow inside a large area. Indeed, statistic data from institutional organisms and industries may vary from one source to the other, and the utilization of the redundancy of information is an efficient tool for obtaining more precise data. Moreover, the dynamic analysis allows modelling the stock evolution with more accuracy than in previous studies. Finally, theresults are compared with existing values for other countries or continents, and some perspectives concerning theuse of copper in France are given
The First Provenance Challenge
The first Provenance Challenge was set up in order to provide a forum for the community to help understand the capabilities of different provenance systems and the expressiveness of their provenance representations. To this end, a Functional Magnetic Resonance Imaging workflow was defined, which participants had to either simulate or run in order to produce some provenance representation, from which a set of identified queries had to be implemented and executed. Sixteen teams responded to the challenge, and submitted their inputs. In this paper, we present the challenge workflow and queries, and summarise the participants contributions
Schimke immunoosseous dysplasia: defining skeletal features
Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis. Biallelic mutations in swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) are the only identified cause of SIOD, but approximately half of patients referred for molecular studies do not have detectable mutations in SMARCAL1. We hypothesized that skeletal features distinguish between those with or without SMARCAL1 mutations. Therefore, we analyzed the skeletal radiographs of 22 patients with and 11 without detectable SMARCAL1 mutations. We found that patients with SMARCAL1 mutations have a spondyloepiphyseal dysplasia (SED) essentially limited to the spine, pelvis, capital femoral epiphyses, and possibly the sella turcica, whereas the hands and other long bones are basically normal. Additionally, we found that several of the adolescent and young adult patients developed osteoporosis and coxarthrosis. Of the 11 patients without detectable SMARCAL1 mutations, seven had a SED indistinguishable from patients with SMARCAL1 mutations. We conclude therefore that SED is a feature of patients with SMARCAL1 mutations and that skeletal features do not distinguish who of those with SED have SMARCAL1 mutations
Combined Forward-Backward Asymmetry Measurements in Top-Antitop Quark Production at the Tevatron
The CDF and D0 experiments at the Fermilab Tevatron have measured the asymmetry between yields of forward- and backward-produced top and antitop quarks based on their rapidity difference and the asymmetry between their decay leptons. These measurements use the full data sets collected in proton-antiproton collisions at a center-of-mass energy of TeV. We report the results of combinations of the inclusive asymmetries and their differential dependencies on relevant kinematic quantities. The combined inclusive asymmetry is . The combined inclusive and differential asymmetries are consistent with recent standard model predictions
Genetic architecture of subcortical brain structures in 38,851 individuals
Subcortical brain structures are integral to motion, consciousness, emotions and learning. We identified common genetic variation related to the volumes of the nucleus accumbens, amygdala, brainstem, caudate nucleus, globus pallidus, putamen and thalamus, using genome-wide association analyses in almost 40,000 individuals from CHARGE, ENIGMA and UK Biobank. We show that variability in subcortical volumes is heritable, and identify 48 significantly associated loci (40 novel at the time of analysis). Annotation of these loci by utilizing gene expression, methylation and neuropathological data identified 199 genes putatively implicated in neurodevelopment, synaptic signaling, axonal transport, apoptosis, inflammation/infection and susceptibility to neurological disorders. This set of genes is significantly enriched for Drosophila orthologs associated with neurodevelopmental phenotypes, suggesting evolutionarily conserved mechanisms. Our findings uncover novel biology and potential drug targets underlying brain development and disease
Genetic architecture of subcortical brain structures in 38,851 individuals
Subcortical brain structures are integral to motion, consciousness, emotions and learning. We identified common genetic variation related to the volumes of the nucleus accumbens, amygdala, brainstem, caudate nucleus, globus pallidus, putamen and thalamus, using genome-wide association analyses in almost 40,000 individuals from CHARGE, ENIGMA and UK Biobank. We show that variability in subcortical volumes is heritable, and identify 48 significantly associated loci (40 novel at the time of analysis). Annotation of these loci by utilizing gene expression, methylation and neuropathological data identified 199 genes putatively implicated in neurodevelopment, synaptic signaling, axonal transport, apoptosis, inflammation/infection and susceptibility to neurological disorders. This set of genes is significantly enriched for Drosophila orthologs associated with neurodevelopmental phenotypes, suggesting evolutionarily conserved mechanisms. Our findings uncover novel biology and potential drug targets underlying brain development and disease
Novel genetic loci underlying human intracranial volume identified through genome-wide association
Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five novel loci for intracranial volume and confirmed two known signals. Four of the loci are also associated with adult human stature, but these remained associated with intracranial volume after adjusting for height. We found a high genetic correlation with child head circumference (ρgenetic=0.748), which indicated a similar genetic background and allowed for the identification of four additional loci through meta-analysis (Ncombined = 37,345). Variants for intracranial volume were also related to childhood and adult cognitive function, Parkinson’s disease, and enriched near genes involved in growth pathways including PI3K–AKT signaling. These findings identify biological underpinnings of intracranial volume and provide genetic support for theories on brain reserve and brain overgrowth
The genetic architecture of the human cerebral cortex
The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson's disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder
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