The Five Factor Model of personality and evaluation of drug consumption risk

The problem of evaluating an individual's risk of drug consumption and misuse is highly important. An online survey methodology was employed to collect data including Big Five personality traits (NEO-FFI-R), impulsivity (BIS-11), sensation seeking (ImpSS), and demographic information. The data set contained information on the consumption of 18 central nervous system psychoactive drugs. Correlation analysis demonstrated the existence of groups of drugs with strongly correlated consumption patterns. Three correlation pleiades were identified, named by the central drug in the pleiade: ecstasy, heroin, and benzodiazepines pleiades. An exhaustive search was performed to select the most effective subset of input features and data mining methods to classify users and non-users for each drug and pleiad. A number of classification methods were employed (decision tree, random forest, $k$-nearest neighbors, linear discriminant analysis, Gaussian mixture, probability density function estimation, logistic regression and na{\"i}ve Bayes) and the most effective classifier was selected for each drug. The quality of classification was surprisingly high with sensitivity and specificity (evaluated by leave-one-out cross-validation) being greater than 70\% for almost all classification tasks. The best results with sensitivity and specificity being greater than 75\% were achieved for cannabis, crack, ecstasy, legal highs, LSD, and volatile substance abuse (VSA).Comment: Significantly extended report with 67 pages, 27 tables, 21 figure

The genetic architecture of the human cerebral cortex

INTRODUCTION The cerebral cortex underlies our complex cognitive capabilities. Variations in human cortical surface area and thickness are associated with neurological, psychological, and behavioral traits and can be measured in vivo by magnetic resonance imaging (MRI). Studies in model organisms have identified genes that influence cortical structure, but little is known about common genetic variants that affect human cortical structure. RATIONALE To identify genetic variants associated with human cortical structure at both global and regional levels, we conducted a genome-wide association meta-analysis of brain MRI data from 51,665 individuals across 60 cohorts. We analyzed the surface area and average thickness of the whole cortex and 34 cortical regions with known functional specializations. RESULTS We identified 306 nominally genome-wide significant loci (P < 5 × 10−8) associated with cortical structure in a discovery sample of 33,992 participants of European ancestry. Of the 299 loci for which replication data were available, 241 loci influencing surface area and 14 influencing thickness remained significant after replication, with 199 loci passing multiple testing correction (P < 8.3 × 10−10; 187 influencing surface area and 12 influencing thickness). Common genetic variants explained 34% (SE = 3%) of the variation in total surface area and 26% (SE = 2%) in average thickness; surface area and thickness showed a negative genetic correlation (rG = −0.32, SE = 0.05, P = 6.5 × 10−12), which suggests that genetic influences have opposing effects on surface area and thickness. Bioinformatic analyses showed that total surface area is influenced by genetic variants that alter gene regulatory activity in neural progenitor cells during fetal development. By contrast, average thickness is influenced by active regulatory elements in adult brain samples, which may reflect processes that occur after mid-fetal development, such as myelination, branching, or pruning. When considered together, these results support the radial unit hypothesis that different developmental mechanisms promote surface area expansion and increases in thickness. To identify specific genetic influences on individual cortical regions, we controlled for global measures (total surface area or average thickness) in the regional analyses. After multiple testing correction, we identified 175 loci that influence regional surface area and 10 that influence regional thickness. Loci that affect regional surface area cluster near genes involved in the Wnt signaling pathway, which is known to influence areal identity. We observed significant positive genetic correlations and evidence of bidirectional causation of total surface area with both general cognitive functioning and educational attainment. We found additional positive genetic correlations between total surface area and Parkinson’s disease but did not find evidence of causation. Negative genetic correlations were evident between total surface area and insomnia, attention deficit hyperactivity disorder, depressive symptoms, major depressive disorder, and neuroticism. CONCLUSION This large-scale collaborative work enhances our understanding of the genetic architecture of the human cerebral cortex and its regional patterning. The highly polygenic architecture of the cortex suggests that distinct genes are involved in the development of specific cortical areas. Moreover, we find evidence that brain structure is a key phenotype along the causal pathway that leads from genetic variation to differences in general cognitive function

Mapping and characterization of structural variation in 17,795 human genomes

A key goal of whole-genome sequencing for studies of human genetics is to interrogate all forms of variation, including single-nucleotide variants, small insertion or deletion (indel) variants and structural variants. However, tools and resources for the study of structural variants have lagged behind those for smaller variants. Here we used a scalable pipeline1 to map and characterize structural variants in 17,795 deeply sequenced human genomes. We publicly release site-frequency data to create the largest, to our knowledge, whole-genome-sequencing-based structural variant resource so far. On average, individuals carry 2.9 rare structural variants that alter coding regions; these variants affect the dosage or structure of 4.2 genes and account for 4.0–11.2% of rare high-impact coding alleles. Using a computational model, we estimate that structural variants account for 17.2% of rare alleles genome-wide, with predicted deleterious effects that are equivalent to loss-of-function coding alleles; approximately 90% of such structural variants are noncoding deletions (mean 19.1 per genome). We report 158,991 ultra-rare structural variants and show that 2% of individuals carry ultra-rare megabase-scale structural variants, nearly half of which are balanced or complex rearrangements. Finally, we infer the dosage sensitivity of genes and noncoding elements, and reveal trends that relate to element class and conservation. This work will help to guide the analysis and interpretation of structural variants in the era of whole-genome sequencing

Visual feature integration theory: Past, present, and future

Visual feature integration theory was one of the most influential theories of visual information processing in the last quarter of the 20th century. This article provides an exposition of the theory and a review of the associated data. In the past much emphasis has been placed on how the theory explains performance in various visual search tasks. The relevant literature is discussed and alternative accounts are described. Amendments to the theory are also set out. Many other issues concerning internal processes and representations implicated by the theory are reviewed. The article closes with a synopsis of what has been learned from consideration of the theory, and it is concluded that some of the issues may remain intractable unless appropriate neuroscientific investigations are carried out

Within- and between-dimensional processing in the auditory modality

Participants made speeded target-nontarget responses to singly presented auditory stimuli in 2 tasks. In within-dimension conditions, participants listened for either of 2 target features taken from the same dimension; in between-dimensions conditions, the target features were taken from different dimensions. Judgments were based on the presence or absence of either target feature. Speech sounds, defined relative to sound identity and locale, were used in Experiment 1, whereas tones, comprising pitch and locale components, were used in Experiments 2 and 3. In all cases, participants performed better when the target features were taken from the same dimension than when they were taken from different dimensions. Data suggest that the auditory and visual systems exhibit the same higher level processing constraints

Stimulus processing constraints in audition

In 3 experiments, the authors tested performance in simple tone matching and classification tasks. Each tone was defined on location and frequency dimensions. In the first 2 experiments, participants completed a same-different matching task on the basis of one of these dimensions while attempting to ignore irrelevant variation in the other dimension. In Experiment 3, in which the tones were classified either by frequency or location, the authors explored intertrial repetition effects. The patterns of performance across these different tasks were remarkably similar and were taken to reveal basic characteristics of stimulus encoding processes. The data suggest a processing sequence in audition that reveals an early stage in which location and frequency are treated as being integral and a latter stage in which location and frequency are separabl

Re-thinking stages of cognitive development: An appraisal of connectionist models of the balance scale task

The present paper re-appraises connectionist attempts to explain how human cognitive development appears to progress through a series of sequential stages. Models of performance on the Piagetian balance scale task are the focus of attention. Limitations of these models are discussed and replications and extensions to the work are provided via the Cascade-Correlation algorithm. An application of multi-group latent class analysis for examining performance of the networks is described and these results reveal fundamental functional characteristics of the networks. Evidence is provided that strongly suggests that the networks are unable to acquire a mastery of torque and, although they do recover certain rules of operation that humans do, they also show a propensity to acquire rules never previously seen