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2016


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Modeling Confounding by Half-Sibling Regression

Schölkopf, B., Hogg, D., Wang, D., Foreman-Mackey, D., Janzing, D., Simon-Gabriel, C. J., Peters, J.

Proceedings of the National Academy of Science, 113(27):7391-7398, 2016 (article)

Code link (url) DOI Project Page [BibTex]

2016

Code link (url) DOI Project Page [BibTex]


Dual Control for Approximate Bayesian Reinforcement Learning
Dual Control for Approximate Bayesian Reinforcement Learning

Klenske, E. D., Hennig, P.

Journal of Machine Learning Research, 17(127):1-30, 2016 (article)

PDF link (url) [BibTex]

PDF link (url) [BibTex]


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A Population Based Gaussian Mixture Model Incorporating 18F-FDG-PET and DW-MRI Quantifies Tumor Tissue Classes

Divine, M. R., Katiyar, P., Kohlhofer, U., Quintanilla-Martinez, L., Disselhorst, J. A., Pichler, B. J.

Journal of Nuclear Medicine, 57(3):473-479, 2016 (article)

DOI [BibTex]

DOI [BibTex]


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Painfree and accurate Bayesian estimation of psychometric functions for (potentially) overdispersed data

Schütt, H. H., Harmeling, S., Macke, J. H., Wichmann, F. A.

Vision Research, 122, pages: 105-123, 2016 (article)

link (url) DOI Project Page [BibTex]

link (url) DOI Project Page [BibTex]


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Hierarchical Relative Entropy Policy Search

Daniel, C., Neumann, G., Kroemer, O., Peters, J.

Journal of Machine Learning Research, 17(93):1-50, 2016 (article)

link (url) Project Page [BibTex]

link (url) Project Page [BibTex]


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Kernel Mean Shrinkage Estimators

Muandet, K., Sriperumbudur, B., Fukumizu, K., Gretton, A., Schölkopf, B.

Journal of Machine Learning Research, 17(48):1-41, 2016 (article)

link (url) [BibTex]

link (url) [BibTex]


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Learning to Deblur

Schuler, C. J., Hirsch, M., Harmeling, S., Schölkopf, B.

IEEE Transactions on Pattern Analysis and Machine Intelligence, 38(7):1439-1451, IEEE, 2016 (article)

DOI [BibTex]

DOI [BibTex]


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Transfer Learning in Brain-Computer Interfaces

Jayaram, V., Alamgir, M., Altun, Y., Schölkopf, B., Grosse-Wentrup, M.

IEEE Computational Intelligence Magazine, 11(1):20-31, 2016 (article)

PDF DOI [BibTex]

PDF DOI [BibTex]


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MERLiN: Mixture Effect Recovery in Linear Networks

Weichwald, S., Grosse-Wentrup, M., Gretton, A.

IEEE Journal of Selected Topics in Signal Processing, 10(7):1254-1266, 2016 (article)

Arxiv Code PDF DOI Project Page [BibTex]

Arxiv Code PDF DOI Project Page [BibTex]


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Causal inference using invariant prediction: identification and confidence intervals

Peters, J., Bühlmann, P., Meinshausen, N.

Journal of the Royal Statistical Society, Series B (Statistical Methodology), 78(5):947-1012, 2016, (with discussion) (article)

link (url) DOI [BibTex]

link (url) DOI [BibTex]


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Causal discovery and inference: concepts and recent methodological advances

Spirtes, P., Zhang, K.

Applied Informatics, 3(3):1-28, 2016 (article)

DOI [BibTex]

DOI [BibTex]


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Influence Estimation and Maximization in Continuous-Time Diffusion Networks

Gomez-Rodriguez, M., Song, L., Du, N., Zha, H., Schölkopf, B.

ACM Transactions on Information Systems, 34(2):9:1-9:33, 2016 (article)

DOI Project Page Project Page [BibTex]

DOI Project Page Project Page [BibTex]


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The population of long-period transiting exoplanets

Foreman-Mackey, D., Morton, T. D., Hogg, D. W., Agol, E., Schölkopf, B.

The Astronomical Journal, 152(6):206, 2016 (article)

link (url) Project Page [BibTex]

link (url) Project Page [BibTex]


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Screening Rules for Convex Problems

Raj, A., Olbrich, J., Gärtner, B., Schölkopf, B., Jaggi, M.

2016 (unpublished) Submitted

[BibTex]

[BibTex]


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An overview of quantitative approaches in Gestalt perception

Jäkel, F., Singh, M., Wichmann, F. A., Herzog, M. H.

Vision Research, 126, pages: 3-8, 2016 (article)

link (url) DOI Project Page [BibTex]

link (url) DOI Project Page [BibTex]


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Bootstrat: Population Informed Bootstrapping for Rare Variant Tests

Huang, H., Peloso, G. M., Howrigan, D., Rakitsch, B., Simon-Gabriel, C. J., Goldstein, J. I., Daly, M. J., Borgwardt, K., Neale, B. M.

bioRxiv, 2016, preprint (article)

link (url) DOI [BibTex]

link (url) DOI [BibTex]


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Probabilistic Movement Models Show that Postural Control Precedes and Predicts Volitional Motor Control

Rueckert, E., Camernik, J., Peters, J., Babic, J.

Nature PG: Scientific Reports, 6(Article number: 28455), 2016 (article)

DOI Project Page [BibTex]

DOI Project Page [BibTex]


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Learning Taxonomy Adaptation in Large-scale Classification

Babbar, R., Partalas, I., Gaussier, E., Amini, M., Amblard, C.

Journal of Machine Learning Research, 17(98):1-37, 2016 (article)

link (url) Project Page [BibTex]

link (url) Project Page [BibTex]


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BOiS—Berlin Object in Scene Database: Controlled Photographic Images for Visual Search Experiments with Quantified Contextual Priors

Mohr, J., Seyfarth, J., Lueschow, A., Weber, J. E., Wichmann, F. A., Obermayer, K.

Frontiers in Psychology, 2016 (article)

DOI [BibTex]

DOI [BibTex]


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Preface to the ACM TIST Special Issue on Causal Discovery and Inference

Zhang, K., Li, J., Bareinboim, E., Schölkopf, B., Pearl, J.

ACM Transactions on Intelligent Systems and Technologies, 7(2):article no. 17, 2016 (article)

DOI [BibTex]

DOI [BibTex]


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Recurrent Spiking Networks Solve Planning Tasks

Rueckert, E., Kappel, D., Tanneberg, D., Pecevski, D., Peters, J.

Nature PG: Scientific Reports, 6(Article number: 21142), 2016 (article)

DOI Project Page [BibTex]

DOI Project Page [BibTex]


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Bio-inspired feedback-circuit implementation of discrete, free energy optimizing, winner-take-all computations

Genewein, T, Braun, DA

Biological Cybernetics, 110(2):135–150, June 2016 (article)

Abstract
Bayesian inference and bounded rational decision-making require the accumulation of evidence or utility, respectively, to transform a prior belief or strategy into a posterior probability distribution over hypotheses or actions. Crucially, this process cannot be simply realized by independent integrators, since the different hypotheses and actions also compete with each other. In continuous time, this competitive integration process can be described by a special case of the replicator equation. Here we investigate simple analog electric circuits that implement the underlying differential equation under the constraint that we only permit a limited set of building blocks that we regard as biologically interpretable, such as capacitors, resistors, voltage-dependent conductances and voltage- or current-controlled current and voltage sources. The appeal of these circuits is that they intrinsically perform normalization without requiring an explicit divisive normalization. However, even in idealized simulations, we find that these circuits are very sensitive to internal noise as they accumulate error over time. We discuss in how far neural circuits could implement these operations that might provide a generic competitive principle underlying both perception and action.

DOI [BibTex]

DOI [BibTex]


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Decision-Making under Ambiguity Is Modulated by Visual Framing, but Not by Motor vs. Non-Motor Context: Experiments and an Information-Theoretic Ambiguity Model

Grau-Moya, J, Ortega, PA, Braun, DA

PLoS ONE, 11(4):1-21, April 2016 (article)

Abstract
A number of recent studies have investigated differences in human choice behavior depending on task framing, especially comparing economic decision-making to choice behavior in equivalent sensorimotor tasks. Here we test whether decision-making under ambiguity exhibits effects of task framing in motor vs. non-motor context. In a first experiment, we designed an experience-based urn task with varying degrees of ambiguity and an equivalent motor task where subjects chose between hitting partially occluded targets. In a second experiment, we controlled for the different stimulus design in the two tasks by introducing an urn task with bar stimuli matching those in the motor task. We found ambiguity attitudes to be mainly influenced by stimulus design. In particular, we found that the same subjects tended to be ambiguity-preferring when choosing between ambiguous bar stimuli, but ambiguity-avoiding when choosing between ambiguous urn sample stimuli. In contrast, subjects’ choice pattern was not affected by changing from a target hitting task to a non-motor context when keeping the stimulus design unchanged. In both tasks subjects’ choice behavior was continuously modulated by the degree of ambiguity. We show that this modulation of behavior can be explained by an information-theoretic model of ambiguity that generalizes Bayes-optimal decision-making by combining Bayesian inference with robust decision-making under model uncertainty. Our results demonstrate the benefits of information-theoretic models of decision-making under varying degrees of ambiguity for a given context, but also demonstrate the sensitivity of ambiguity attitudes across contexts that theoretical models struggle to explain.

DOI [BibTex]

2012


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Jensen-Bregman LogDet Divergence with Application to Efficient Similarity Search for Covariance Matrices

Cherian, A., Sra, S., Banerjee, A., Papanikolopoulos, N.

IEEE Transactions on Pattern Analysis and Machine Intelligence, 35(9):2161-2174, December 2012 (article)

DOI [BibTex]

2012

DOI [BibTex]


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Hippocampal-Cortical Interaction during Periods of Subcortical Silence

Logothetis, N., Eschenko, O., Murayama, Y., Augath, M., Steudel, T., Evrard, H., Besserve, M., Oeltermann, A.

Nature, 491, pages: 547-553, November 2012 (article)

Abstract
Hippocampal ripples, episodic high-frequency field-potential oscillations primarily occurring during sleep and calmness, have been described in mice, rats, rabbits, monkeys and humans, and so far they have been associated with retention of previously acquired awake experience. Although hippocampal ripples have been studied in detail using neurophysiological methods, the global effects of ripples on the entire brain remain elusive, primarily owing to a lack of methodologies permitting concurrent hippocampal recordings and whole-brain activity mapping. By combining electrophysiological recordings in hippocampus with ripple-triggered functional magnetic resonance imaging, here we show that most of the cerebral cortex is selectively activated during the ripples, whereas most diencephalic, midbrain and brainstem regions are strongly and consistently inhibited. Analysis of regional temporal response patterns indicates that thalamic activity suppression precedes the hippocampal population burst, which itself is temporally bounded by massive activations of association and primary cortical areas. These findings suggest that during off-line memory consolidation, synergistic thalamocortical activity may be orchestrating a privileged interaction state between hippocampus and cortex by silencing the output of subcortical centres involved in sensory processing or potentially mediating procedural learning. Such a mechanism would cause minimal interference, enabling consolidation of hippocampus-dependent memory.

Web DOI [BibTex]

Web DOI [BibTex]


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Scalable graph kernels

Shervashidze, N.

Eberhard Karls Universität Tübingen, Germany, October 2012 (phdthesis)

Web [BibTex]

Web [BibTex]


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Thermodynamic limits of dynamic cooling

Allahverdyan, A., Hovhannisyan, K., Janzing, D., Mahler, G.

Physical Review E, 84(4):16, October 2012 (article)

Abstract
We study dynamic cooling, where an externally driven two-level system is cooled via reservoir, a quantum system with initial canonical equilibrium state. We obtain explicitly the minimal possible temperature Tmin>0 reachable for the two-level system. The minimization goes over all unitary dynamic processes operating on the system and reservoir and over the reservoir energy spectrum. The minimal work needed to reach Tmin grows as 1/Tmin. This work cost can be significantly reduced, though, if one is satisfied by temperatures slightly above Tmin. Our results on Tmin>0 prove unattainability of the absolute zero temperature without ambiguities that surround its derivation from the entropic version of the third law. We also study cooling via a reservoir consisting of N≫1 identical spins. Here we show that Tmin∝1/N and find the maximal cooling compatible with the minimal work determined by the free energy. Finally we discuss cooling by reservoir with an initially microcanonic state and show that although a purely microcanonic state can yield the zero temperature, the unattainability is recovered when taking into account imperfections in preparing the microcanonic state.

Web DOI [BibTex]

Web DOI [BibTex]


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GLIDE: GPU-Based Linear Regression for Detection of Epistasis

Kam-Thong, T., Azencott, C., Cayton, L., Pütz, B., Altmann, A., Karbalai, N., Sämann, P., Schölkopf, B., Müller-Myhsok, B., Borgwardt, K.

Human Heredity, 73(4):220-236, September 2012 (article)

Abstract
Due to recent advances in genotyping technologies, mapping phenotypes to single loci in the genome has become a standard technique in statistical genetics. However, one-locus mapping fails to explain much of the phenotypic variance in complex traits. Here, we present GLIDE, which maps phenotypes to pairs of genetic loci and systematically searches for the epistatic interactions expected to reveal part of this missing heritability. GLIDE makes use of the computational power of consumer-grade graphics cards to detect such interactions via linear regression. This enabled us to conduct a systematic two-locus mapping study on seven disease data sets from the Wellcome Trust Case Control Consortium and on in-house hippocampal volume data in 6 h per data set, while current single CPU-based approaches require more than a year’s time to complete the same task.

Web [BibTex]

Web [BibTex]


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Fast projection onto mixed-norm balls with applications

Sra, S.

Minining and Knowledge Discovery (DMKD), 25(2):358-377, September 2012 (article)

DOI [BibTex]

DOI [BibTex]


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Bayesian estimation of free energies from equilibrium simulations

Habeck, M.

Physical Review Letters, 109(10):5, September 2012 (article)

Abstract
Free energy calculations are an important tool in statistical physics and biomolecular simulation. This Letter outlines a Bayesian method to estimate free energies from equilibrium Monte Carlo simulations. A Gibbs sampler is developed that allows efficient sampling of free energies and the density of states. The Gibbs sampling output can be used to estimate expected free energy differences and their uncertainties. The probabilistic formulation offers a unifying framework for existing methods such as the weighted histogram analysis method and the multistate Bennett acceptance ratio; both are shown to be approximate versions of the full probabilistic treatment.

Web DOI [BibTex]

Web DOI [BibTex]


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PAC-Bayesian Inequalities for Martingales

Seldin, Y., Laviolette, F., Cesa-Bianchi, N., Shawe-Taylor, J., Auer, P.

IEEE Transactions on Information Theory, 58(12):7086-7093, June 2012 (article)

Abstract
We present a set of high-probability inequalities that control the concentration of weighted averages of multiple (possibly uncountably many) simultaneously evolving and interdependent martingales. We also present a comparison inequality that bounds expectation of a convex function of martingale difference type variables by expectation of the same function of independent Bernoulli variables. This inequality is applied to derive a tighter analog of Hoeffding-Azuma inequality.

PDF Web DOI [BibTex]

PDF Web DOI [BibTex]


Entropy Search for Information-Efficient Global Optimization
Entropy Search for Information-Efficient Global Optimization

Hennig, P., Schuler, C.

Journal of Machine Learning Research, 13, pages: 1809-1837, -, June 2012 (article)

Abstract
Contemporary global optimization algorithms are based on local measures of utility, rather than a probability measure over location and value of the optimum. They thus attempt to collect low function values, not to learn about the optimum. The reason for the absence of probabilistic global optimizers is that the corresponding inference problem is intractable in several ways. This paper develops desiderata for probabilistic optimization algorithms, then presents a concrete algorithm which addresses each of the computational intractabilities with a sequence of approximations and explicitly adresses the decision problem of maximizing information gain from each evaluation.

PDF Web Project Page [BibTex]

PDF Web Project Page [BibTex]


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A Neuromorphic Architecture for Object Recognition and Motion Anticipation Using Burst-STDP

Nere, A., Olcese, U., Balduzzi, D., Tononi, G.

PLoS ONE, 7(5):17, May 2012 (article)

Abstract
In this work we investigate the possibilities offered by a minimal framework of artificial spiking neurons to be deployed in silico. Here we introduce a hierarchical network architecture of spiking neurons which learns to recognize moving objects in a visual environment and determine the correct motor output for each object. These tasks are learned through both supervised and unsupervised spike timing dependent plasticity (STDP). STDP is responsible for the strengthening (or weakening) of synapses in relation to pre- and post-synaptic spike times and has been described as a Hebbian paradigm taking place both in vitro and in vivo. We utilize a variation of STDP learning, called burst-STDP, which is based on the notion that, since spikes are expensive in terms of energy consumption, then strong bursting activity carries more information than single (sparse) spikes. Furthermore, this learning algorithm takes advantage of homeostatic renormalization, which has been hypothesized to promote memory consolidation during NREM sleep. Using this learning rule, we design a spiking neural network architecture capable of object recognition, motion detection, attention towards important objects, and motor control outputs. We demonstrate the abilities of our design in a simple environment with distractor objects, multiple objects moving concurrently, and in the presence of noise. Most importantly, we show how this neural network is capable of performing these tasks using a simple leaky-integrate-and-fire (LIF) neuron model with binary synapses, making it fully compatible with state-of-the-art digital neuromorphic hardware designs. As such, the building blocks and learning rules presented in this paper appear promising for scalable fully neuromorphic systems to be implemented in hardware chips.

PDF Web DOI [BibTex]


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Online Kernel-based Learning for Task-Space Tracking Robot Control

Nguyen-Tuong, D., Peters, J.

IEEE Transactions on Neural Networks and Learning Systems, 23(9):1417-1425, May 2012 (article)

Abstract
Abstract—Task-space control of redundant robot systems based on analytical models is known to be susceptive to modeling errors. Here, data driven model learning methods may present an interesting alternative approach. However, learning models for task-space tracking control from sampled data is an illposed problem. In particular, the same input data point can yield many different output values, which can form a non-convex solution space. Because the problem is ill-posed, models cannot be learned from such data using common regression methods. While learning of task-space control mappings is globally illposed, it has been shown in recent work that it is locally a well-defined problem. In this paper, we use this insight to formulate a local, kernel-based learning approach for online model learning for task-space tracking control. We propose a parametrization for the local model which makes an application in task-space tracking control of redundant robots possible. The model parametrization further allows us to apply the kerneltrick and, therefore, enables a formulation within the kernel learning framework. For evaluations, we show the ability of the method for online model learning for task-space tracking control of redundant robots.

PDF DOI [BibTex]

PDF DOI [BibTex]


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Information-geometric approach to inferring causal directions

Janzing, D., Mooij, J., Zhang, K., Lemeire, J., Zscheischler, J., Daniušis, P., Steudel, B., Schölkopf, B.

Artificial Intelligence, 182-183, pages: 1-31, May 2012 (article)

Abstract
While conventional approaches to causal inference are mainly based on conditional (in)dependences, recent methods also account for the shape of (conditional) distributions. The idea is that the causal hypothesis “X causes Y” imposes that the marginal distribution PX and the conditional distribution PY|X represent independent mechanisms of nature. Recently it has been postulated that the shortest description of the joint distribution PX,Y should therefore be given by separate descriptions of PX and PY|X. Since description length in the sense of Kolmogorov complexity is uncomputable, practical implementations rely on other notions of independence. Here we define independence via orthogonality in information space. This way, we can explicitly describe the kind of dependence that occurs between PY and PX|Y making the causal hypothesis “Y causes X” implausible. Remarkably, this asymmetry between cause and effect becomes particularly simple if X and Y are deterministically related. We present an inference method that works in this case. We also discuss some theoretical results for the non-deterministic case although it is not clear how to employ them for a more general inference method.

Web DOI [BibTex]

Web DOI [BibTex]


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Sparse regularized regression identifies behaviorally-relevant stimulus features from psychophysical data

Schönfelder, V., Wichmann, F.

Journal of the Acoustical Society of America, 131(5):3953-3969, May 2012 (article)

Abstract
As a prerequisite to quantitative psychophysical models of sensory processing it is necessary to learn to what extent decisions in behavioral tasks depend on specific stimulus features, the perceptual cues. Based on relative linear combination weights, this study demonstrates how stimulus-response data can be analyzed in this regard relying on an L1-regularized multiple logistic regression, a modern statistical procedure developed in machine learning. This method prevents complex models from over-fitting to noisy data. In addition, it enforces “sparse” solutions, a computational approximation to the postulate that a good model should contain the minimal set of predictors necessary to explain the data. In simulations, behavioral data from a classical auditory tone-in-noise detection task were generated. The proposed method is shown to precisely identify observer cues from a large set of covarying, interdependent stimulus features—a setting where standard correlational and regression methods fail. The proposed method succeeds for a wide range of signal-to-noise ratios and for deterministic as well as probabilistic observers. Furthermore, the detailed decision rules of the simulated observers were reconstructed from the estimated linear model weights allowing predictions of responses on the basis of individual stimuli.

Web DOI [BibTex]

Web DOI [BibTex]


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glm-ie: The Generalised Linear Models Inference and Estimation Toolbox

Nickisch, H.

Journal of Machine Learning Research, 13, pages: 1699-1703, May 2012 (article)

Abstract
The glm-ie toolbox contains scalable estimation routines for GLMs (generalised linear models) and SLMs (sparse linear models) as well as an implementation of a scalable convex variational Bayesian inference relaxation. We designed the glm-ie package to be simple, generic and easily expansible. Most of the code is written in Matlab including some The code is fully compatible to both Matlab 7.x and GNU Octave 3.3.x. Abstract Probabilistic classification, sparse linear modelling and logistic regression are covered in a common algorithmical framework.

PDF PDF [BibTex]

PDF PDF [BibTex]


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Feature Selection via Dependence Maximization

Song, L., Smola, A., Gretton, A., Bedo, J., Borgwardt, K.

Journal of Machine Learning Research, 13, pages: 1393-1434, May 2012 (article)

Abstract
We introduce a framework of feature selection based on dependence maximization between the selected features and the labels of an estimation problem, using the Hilbert-Schmidt Independence Criterion. The key idea is that good features should be highly dependent on the labels. Our approach leads to a greedy procedure for feature selection. We show that a number of existing feature selectors are special cases of this framework. Experiments on both artificial and real-world data show that our feature selector works well in practice.

PDF [BibTex]

PDF [BibTex]


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High gamma-power predicts performance in sensorimotor-rhythm brain-computer interfaces

Grosse-Wentrup, M., Schölkopf, B.

Journal of Neural Engineering, 9(4):046001, May 2012 (article)

Abstract
Subjects operating a brain–computer interface (BCI) based on sensorimotor rhythms exhibit large variations in performance over the course of an experimental session. Here, we show that high-frequency γ-oscillations, originating in fronto-parietal networks, predict such variations on a trial-to-trial basis. We interpret this finding as empirical support for an influence of attentional networks on BCI performance via modulation of the sensorimotor rhythm.

Web DOI [BibTex]


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ShapePheno: Unsupervised extraction of shape phenotypes from biological image collections

Karaletsos, T., Stegle, O., Dreyer, C., Winn, J., Borgwardt, K.

Bioinformatics, 28(7):1001-1008, April 2012 (article)

Abstract
Motivation: Accurate large-scale phenotyping has recently gained considerable importance in biology. For example, in genome wide association studies technological advances have rendered genotyping cheap, leaving phenotype acquisition as the major bottleneck. Automatic image analysis is one major strategy to phenotype individuals in large numbers. Current approaches for visual phenotyping focus predominantly on summarizing statistics and geometric measures, such as height and width of an individual, or color histograms and patterns. However, more subtle, but biologically informative phenotypes, such as the local deformation of the shape of an individual with respect to the population mean cannot be automatically extracted and quantified by current techniques. Results: We propose a probabilistic machine learning model that allows for the extraction of deformation phenotypes from biological images, making them available as quantitative traits for downstream analysis. Our approach jointly models a collection of images using a learned common template that is mapped onto each image through a deformable smooth transformation. In a case study we analyze the shape deformations of 388 guppy fish (Poecilia reticulata). We find that the flexible shape phenotypes our model extracts are complementary to basic geometric measures. Moreover, these quantitative traits assort the observations into distinct groups and can be mapped to polymorphic genetic loci of the sample set.

Web DOI [BibTex]

Web DOI [BibTex]


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A New Perceptual Bias Reveals Suboptimal Population Decoding of Sensory Responses

Putzeys, T., Bethge, M., Wichmann, F., Wagemans, J., Goris, R.

PLoS Computational Biology, 8(4):1-13, April 2012 (article)

Abstract
Several studies have reported optimal population decoding of sensory responses in two-alternative visual discrimination tasks. Such decoding involves integrating noisy neural responses into a more reliable representation of the likelihood that the stimuli under consideration evoked the observed responses. Importantly, an ideal observer must be able to evaluate likelihood with high precision and only consider the likelihood of the two relevant stimuli involved in the discrimination task. We report a new perceptual bias suggesting that observers read out the likelihood representation with remarkably low precision when discriminating grating spatial frequencies. Using spectrally filtered noise, we induced an asymmetry in the likelihood function of spatial frequency. This manipulation mainly affects the likelihood of spatial frequencies that are irrelevant to the task at hand. Nevertheless, we find a significant shift in perceived grating frequency, indicating that observers evaluate likelihoods of a broad range of irrelevant frequencies and discard prior knowledge of stimulus alternatives when performing two-alternative discrimination.

Web DOI [BibTex]

Web DOI [BibTex]


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Patterns of cis regulatory variation in diverse human populations

Stranger, BE., Montgomery, SB., Dimas, AS., Parts, L., Stegle, O., Ingle, CE., Sekowska, M., Smith, GD., Evans, D., Gutierrez-Arcelus, M., others

PLoS genetics, 8(4):e1002639, April 2012 (article)

Abstract
he genetic basis of gene expression variation has long been studied with the aim to understand the landscape of regulatory variants, but also more recently to assist in the interpretation and elucidation of disease signals. To date, many studies have looked in specific tissues and population-based samples, but there has been limited assessment of the degree of inter-population variability in regulatory variation. We analyzed genome-wide gene expression in lymphoblastoid cell lines from a total of 726 individuals from 8 global populations from the HapMap3 project and correlated gene expression levels with HapMap3 SNPs located in cis to the genes. We describe the influence of ancestry on gene expression levels within and between these diverse human populations and uncover a non-negligible impact on global patterns of gene expression. We further dissect the specific functional pathways differentiated between populations. We also identify 5,691 expression quantitative trait loci (eQTLs) after controlling for both non-genetic factors and population admixture and observe that half of the cis-eQTLs are replicated in one or more of the populations. We highlight patterns of eQTL-sharing between populations, which are partially determined by population genetic relatedness, and discover significant sharing of eQTL effects between Asians, European-admixed, and African subpopulations. Specifically, we observe that both the effect size and the direction of effect for eQTLs are highly conserved across populations. We observe an increasing proximity of eQTLs toward the transcription start site as sharing of eQTLs among populations increases, highlighting that variants close to TSS have stronger effects and therefore are more likely to be detected across a wider panel of populations. Together these results offer a unique picture and resource of the degree of differentiation among human populations in functional regulatory variation and provide an estimate for the transferability of complex trait variants across populations.

Web DOI [BibTex]

Web DOI [BibTex]