Uncertainty
Clustering of non-Gaussian data by variational Bayes for normal inverse Gaussian mixture models
Finite mixture models, typically Gaussian mixtures, are well known and widely used as model-based clustering. In practical situations, there are many non-Gaussian data that are heavy-tailed and/or asymmetric. Normal inverse Gaussian (NIG) distributions are normal-variance mean which mixing densities are inverse Gaussian distributions and can be used for both haavy-tail and asymmetry. For NIG mixture models, both expectation-maximization method and variational Bayesian (VB) algorithms have been proposed. However, the existing VB algorithm for NIG mixture have a disadvantage that the shape of the mixing density is limited. In this paper, we propose another VB algorithm for NIG mixture that improves on the shortcomings. We also propose an extension of Dirichlet process mixture models to overcome the difficulty in determining the number of clusters in finite mixture models. We evaluated the performance with artificial data and found that it outperformed Gaussian mixtures and existing implementations for NIG mixtures, especially for highly non-normative data.
AutoCP: Automated Pipelines for Accurate Prediction Intervals
Zhang, Yao, Zame, William, van der Schaar, Mihaela
Successful application of machine learning models to real-world prediction problems, e.g. financial forecasting and personalized medicine, has proved to be challenging, because such settings require limiting and quantifying the uncertainty in the model predictions, i.e. providing valid and accurate prediction intervals. Conformal Prediction is a distribution-free approach to construct valid prediction intervals in finite samples. However, the prediction intervals constructed by Conformal Prediction are often (because of over-fitting, inappropriate measures of nonconformity, or other issues) overly conservative and hence inadequate for the application(s) at hand. This paper proposes an AutoML framework called Automatic Machine Learning for Conformal Prediction (AutoCP). Unlike the familiar AutoML frameworks that attempt to select the best prediction model, AutoCP constructs prediction intervals that achieve the user-specified target coverage rate while optimizing the interval length to be accurate and less conservative. We tested AutoCP on a variety of datasets and found that it significantly outperforms benchmark algorithms.
Tracking disease outbreaks from sparse data with Bayesian inference
Wilder, Bryan, Mina, Michael J., Tambe, Milind
The COVID-19 pandemic provides new motivation for a classic problem in epidemiology: estimating the empirical rate of transmission during an outbreak (formally, the time-varying reproduction number) from case counts. While standard methods exist, they work best at coarse-grained national or state scales with abundant data, and struggle to accommodate the partial observability and sparse data common at finer scales (e.g., individual schools or towns). For example, case counts may be sparse when only a small fraction of infections are caught by a testing program. Or, whether an infected individual tests positive may depend on the kind of test and the point in time when they are tested. We propose a Bayesian framework which accommodates partial observability in a principled manner. Our model places a Gaussian process prior over the unknown reproduction number at each time step and models observations sampled from the distribution of a specific testing program. For example, our framework can accommodate a variety of kinds of tests (viral RNA, antibody, antigen, etc.) and sampling schemes (e.g., longitudinal or cross-sectional screening). Inference in this framework is complicated by the presence of tens or hundreds of thousands of discrete latent variables. To address this challenge, we propose an efficient stochastic variational inference method which relies on a novel gradient estimator for the variational objective. Experimental results for an example motivated by COVID-19 show that our method produces an accurate and well-calibrated posterior, while standard methods for estimating the reproduction number can fail badly.
Explainable Automated Reasoning in Law using Probabilistic Epistemic Argumentation
Applying automated reasoning tools for decision support and analysis in law has the potential to make court decisions more transparent and objective. Since there is often uncertainty about the accuracy and relevance of evidence, non-classical reasoning approaches are required. Here, we investigate probabilistic epistemic argumentation as a tool for automated reasoning about legal cases. We introduce a general scheme to model legal cases as probabilistic epistemic argumentation problems, explain how evidence can be modeled and sketch how explanations for legal decisions can be generated automatically. Our framework is easily interpretable, can deal with cyclic structures and imprecise probabilities and guarantees polynomial-time probabilistic reasoning in the worst-case.
Machine Learning Against Cancer: Accurate Diagnosis of Cancer by Machine Learning Classification of the Whole Genome Sequencing Data
Machine learning can precisely identify different cancer tumors at any stage by classifying cancerous and healthy samples based on their genomic profile. We have developed novel methods of MLAC (Machine Learning Against Cancer) achieving perfect results with perfect precision, sensitivity, and specificity. We have used the whole genome sequencing data acquired by next-generation RNA sequencing techniques in The Cancer Genome Atlas and Genotype-Tissue Expression projects for cancerous and healthy tissues respectively. Moreover, we have shown that unsupervised machine learning clustering has great potential to be used for cancer diagnosis. Indeed, a creative way to work with data and general algorithms has resulted in perfect classification i.e. all precision, sensitivity, and specificity are equal to 1 for most of the different tumor types even with a modest amount of data, and the same method works well on a series of cancers and results in great clustering of cancerous and healthy samples too. Our system can be used in practice because once the classifier is trained, it can be used to classify any new sample of new potential patients. One advantage of our work is that the aforementioned perfect precision and recall are obtained on samples of all stages including very early stages of cancer; therefore, it is a promising tool for diagnosis of cancers in early stages. Another advantage of our novel model is that it works with normalized values of RNA sequencing data, hence people's private sensitive medical data will remain hidden, protected, and safe. This type of analysis will be widespread and economical in the future and people can even learn to receive their RNA sequencing data and do their own preliminary cancer studies themselves which have the potential to help the healthcare systems. It is a great step forward toward good health that is the main base of sustainable societies.
Learning from Very Few Samples: A Survey
Lu, Jiang, Gong, Pinghua, Ye, Jieping, Zhang, Changshui
Few sample learning (FSL) is significant and challenging in the field of machine learning. The capability of learning and generalizing from very few samples successfully is a noticeable demarcation separating artificial intelligence and human intelligence since humans can readily establish their cognition to novelty from just a single or a handful of examples whereas machine learning algorithms typically entail hundreds or thousands of supervised samples to guarantee generalization ability. Despite the long history dated back to the early 2000s and the widespread attention in recent years with booming deep learning technologies, little surveys or reviews for FSL are available until now. In this context, we extensively review 300+ papers of FSL spanning from the 2000s to 2019 and provide a timely and comprehensive survey for FSL. In this survey, we review the evolution history as well as the current progress on FSL, categorize FSL approaches into the generative model based and discriminative model based kinds in principle, and emphasize particularly on the meta learning based FSL approaches. We also summarize several recently emerging extensional topics of FSL and review the latest advances on these topics. Furthermore, we highlight the important FSL applications covering many research hotspots in computer vision, natural language processing, audio and speech, reinforcement learning and robotic, data analysis, etc. Finally, we conclude the survey with a discussion on promising trends in the hope of providing guidance and insights to follow-up researches.
Bayesian Meta-Learning Is All You Need
Update: This post is part of a blog series on Meta-Learning that I'm working on. Check out part 1 and part 2. In my previous post, "Meta-Learning Is All You Need," I discussed the motivation for the meta-learning paradigm, explained the mathematical underpinning, and reviewed the three approaches to design a meta-learning algorithm (namely, black-box, optimization-based, and non-parametric). I also mentioned in the post that there are two views of the meta-learning problem: a deterministic view and a probabilistic view, according to Chelsea Finn. Note: The content of this post is primarily based on CS330's lecture 5 on Bayesian meta-learning. It is accessible to the public.
Large-scale empirical validation of Bayesian Network structure learning algorithms with noisy data
Constantinou, Anthony C., Liu, Yang, Chobtham, Kiattikun, Guo, Zhigao, Kitson, Neville K.
Numerous Bayesian Network (BN) structure learning algorithms have been proposed in the literature over the past few decades. Each publication makes an empirical or theoretical case for the algorithm proposed in that publication and results across studies are often inconsistent in their claims about which algorithm is 'best'. This is partly because there is no agreed evaluation approach to determine their effectiveness. Moreover, each algorithm is based on a set of assumptions, such as complete data and causal sufficiency, and tend to be evaluated with data that conforms to these assumptions, however unrealistic these assumptions may be in the real world. As a result, it is widely accepted that synthetic performance overestimates real performance, although to what degree this may happen remains unknown. This paper investigates the performance of 15 structure learning algorithms. We propose a methodology that applies the algorithms to data that incorporates synthetic noise, in an effort to better understand the performance of structure learning algorithms when applied to real data. Each algorithm is tested over multiple case studies, sample sizes, types of noise, and assessed with multiple evaluation criteria. This work involved approximately 10,000 graphs with a total structure learning runtime of seven months. It provides the first large-scale empirical validation of BN structure learning algorithms under different assumptions of data noise. The results suggest that traditional synthetic performance may overestimate real-world performance by anywhere between 10% and more than 50%. They also show that while score-based learning is generally superior to constraint-based learning, a higher fitting score does not necessarily imply a more accurate causal graph. To facilitate comparisons with future studies, we have made all data, raw results, graphs and BN models freely available online.
Absolutely No Free Lunches!
This paper is concerned with learners who aim to learn patterns in infinite binary sequences: shown longer and longer initial segments of a binary sequence, they either attempt to predict whether the next bit will be a 0 or will be a 1 or they issue forecast probabilities for these events. Several variants of this problem are considered. In each case, a no-free-lunch result of the following form is established: the problem of learning is a formidably difficult one, in that no matter what method is pursued, failure is incomparably more common that success; and difficult choices must be faced in choosing a method of learning, since no approach dominates all others in its range of success. In the simplest case, the comparison of the set of situations in which a method fails and the set of situations in which it succeeds is a matter of cardinality (countable vs. uncountable); in other cases, it is a topological matter (meagre vs. co-meagre) or a hybrid computational-topological matter (effectively meagre vs. effectively co-meagre).
Transcriptomic signatures across human tissues identify functional rare genetic variation
Every human genome contains tens of thousands of rare genetic variants—which include single nucleotide changes, insertions or deletions, and larger structural variants—and some may have a functional effect. Ferraro et al. examined data from individuals in the Genotype-Tissue Expression (GTEx) project for outliers across tissues caused by gene expression, splicing, and allele-specific expression. Single rare variants were observed that affected the expression and allele-specific expression of multiple genes and, in the case of a gene fusion event, splicing. Experimental and computational validation suggest that many individuals carry more than 50 rare variants that affect transcription in some way. Although most variants were predicted to not affect an individual's phenotype, a small percentage showed likely disease-related associations, emphasizing the importance of studying the impact of rare genetic variation on the transcriptome. Science , this issue p. [eaaz5900][1] ### INTRODUCTION The human genome contains tens of thousands of rare (minor allele frequency <1%) variants, some of which contribute to disease risk. Using 838 samples with whole-genome and multitissue transcriptome sequencing data in the Genotype-Tissue Expression (GTEx) project version 8, we assessed how rare genetic variants contribute to extreme patterns in gene expression (eOutliers), allelic expression (aseOutliers), and alternative splicing (sOutliers). We integrated these three signals across 49 tissues with genomic annotations to prioritize high-impact rare variants (RVs) that associate with human traits. ### RATIONALE Outlier gene expression aids in identifying functional RVs. Transcriptome sequencing provides diverse measurements beyond gene expression, including allele-specific expression and alternative splicing, which can provide additional insight into RV functional effects. ### RESULTS After identifying multitissue eOutliers, aseOutliers, and sOutliers, we found that outlier individuals of each type were significantly more likely to carry an RV near the corresponding gene. Among eOutliers, we observed strong enrichment of rare structural variants. sOutliers were particularly enriched for RVs that disrupted or created a splicing consensus sequence. aseOutliers provided the strongest enrichment signal when evaluated from just a single tissue. We developed Watershed, a probabilistic model for personal genome interpretation that improves over standard genomic annotation–based methods for scoring RVs by integrating these three transcriptomic signals from the same individual and replicates in an independent cohort. To assess whether outlier RVs identified in GTEx associate with traits, we evaluated these variants for association with diverse traits in the UK Biobank, the Million Veterans Program, and the Jackson Heart Study. We found that transcriptome-assisted prioritization identified RVs with larger trait effect sizes and were better predictors of effect size than genomic annotation alone. ### CONCLUSION With >800 genomes matched with transcriptomes across 49 tissues, we were able to study RVs that underlie extreme changes in the transcriptome. To capture the diversity of these extreme changes, we developed and integrated approaches to identify expression, allele-specific expression, and alternative splicing outliers, and characterized the RV landscape underlying each outlier signal. We demonstrate that personal genome interpretation and RV discovery is enhanced by using these signals. This approach provides a new means to integrate a richer set of functional RVs into models of genetic burden, improve disease gene identification, and enable the delivery of precision genomics. ![Figure][2] Transcriptomic signatures identify functional rare genetic variation. We identified genes in individuals that show outlier expression, allele-specific expression, or alternative splicing and assessed enrichment of nearby rare variation. We integrated these three outlier signals with genomic annotation data to prioritize functional RVs and to intersect those variants with disease loci to identify potential RV trait associations. Rare genetic variants are abundant across the human genome, and identifying their function and phenotypic impact is a major challenge. Measuring aberrant gene expression has aided in identifying functional, large-effect rare variants (RVs). Here, we expanded detection of genetically driven transcriptome abnormalities by analyzing gene expression, allele-specific expression, and alternative splicing from multitissue RNA-sequencing data, and demonstrate that each signal informs unique classes of RVs. We developed Watershed, a probabilistic model that integrates multiple genomic and transcriptomic signals to predict variant function, validated these predictions in additional cohorts and through experimental assays, and used them to assess RVs in the UK Biobank, the Million Veterans Program, and the Jackson Heart Study. Our results link thousands of RVs to diverse molecular effects and provide evidence to associate RVs affecting the transcriptome with human traits. [1]: /lookup/doi/10.1126/science.aaz5900 [2]: pending:yes