An Interactive Visual Tool to Enhance Understanding of Random Forest Predictions

Random forests are known to provide accurate predictions, but the predictions are not easy to understand. In order to provide support for understanding such predictions, an interactive visual tool has been developed. The tool can be used to manipulate selected features to explore “what-if” scenarios. It exploits the internal structure of decision trees in a trained forest model and presents this information as interactive plots and charts. In addition, the tool presents a simple decision rule as an explanation for the prediction. It also presents the recommendation for reassignments of feature values of the example that leads to change in the prediction to a preferred class. An evaluation of the tool was undertaken in a large truck manufacturing company, targeting the fault prediction of a selected component in trucks. A set of domain experts were invited to use the tool and provide feedback in post-task interviews. The result of this investigation suggests that the tool indeed may aid in understanding the predictions of a random forest, and also allows for gaining new insights

Explaining Random Forest Predictions with Association Rules

Random forests frequently achieve state-of-the-art predictive performance. However, the logic behind their predictions cannot be easily understood, since they are the result of averaging often hundreds or thousands of, possibly conflicting, individual predictions. Instead of presenting all the individual predictions, an alternative is proposed, by which the predictions are explained using association rules generated from itemsets representing paths in the trees of the forest. An empirical investigation is presented, in which alternative ways of generating the association rules are compared with respect to explainability, as measured by the fraction of predictions for which there is no applicable rule and by the fraction of predictions for which there is at least one applicable rule that conflicts with the forest prediction. For the considered datasets, it can be seen that most predictions can be explained by the discovered association rules, which have a high level of agreement with the underlying forest. The results do not single out a clear winner of the considered alternatives in terms of unexplained and disagreement rates, but show that they are associated with substantial differences in computational cost

SCANIA Component X Dataset: A Real-World Multivariate Time Series Dataset for Predictive Maintenance

This paper presents a description of a real-world, multivariate time series dataset collected from an anonymized engine component (called Component X) of a fleet of trucks from SCANIA, Sweden. This dataset includes diverse variables capturing detailed operational data, repair records, and specifications of trucks while maintaining confidentiality by anonymization. It is well-suited for a range of machine learning applications, such as classification, regression, survival analysis, and anomaly detection, particularly when applied to predictive maintenance scenarios. The large population size and variety of features in the format of histograms and numerical counters, along with the inclusion of temporal information, make this real-world dataset unique in the field. The objective of releasing this dataset is to give a broad range of researchers the possibility of working with real-world data from an internationally well-known company and introduce a standard benchmark to the predictive maintenance field, fostering reproducible research.Comment: 10 pages, 8 figure

Predicting NOx sensor failure in heavy duty trucks using histogram-based random forests

Being able to accurately predict the impending failures of truck components is often associated with significant amount of cost savings, customer satisfaction and flexibility in maintenance service plans. However, because of the diversity in the way trucks typically are configured and their usage under different conditions, the creation of accurate prediction models is not an easy task. This paper describes an effort in creating such a prediction model for the NOx sensor, i.e., a component measuring the emitted level of nitrogen oxide in the exhaust of the engine. This component was chosen because it is vital for the truck to function properly, while at the same time being very fragile and costly to repair. As input to the model, technical specifications of trucks and their operational data are used. The process of collecting the data and making it ready for training the model via a slightly modified Random Forest learning algorithm is described along with various challenges encountered during this process. The operational data consists of features represented as histograms, posing an additional challenge for the data analysis task. In the study, a modified version of the random forest algorithm is employed, which exploits the fact that the individual bins in the histograms are related, in contrast to the standard approach that would consider the bins as independent features. Experiments are conducted using the updated random forest algorithm, and they clearly show that the modified version is indeed beneficial when compared to the standard random forest algorithm. The performance of the resulting prediction model for the NOx sensor is promising and may be adopted for the benefit of operators of heavy trucks

Hundreds of variants clustered in genomic loci and biological pathways affect human height

Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P < 0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.

Reading comprehension in autism spectrum disorders: The role of oral language and social functioning

Reading comprehension is an area of difficulty for many individuals with autism spectrum disorders (ASD). According to the Simple View of Reading, word recognition and oral language are both important determinants of reading comprehension ability. We provide a novel test of this model in 100 adolescents with ASD of varying intellectual ability. Further, we explore whether reading comprehension is additionally influenced by individual differences in social behaviour and social cognition in ASD. Adolescents with ASD aged 14-16 years completed assessments indexing word recognition, oral language, reading comprehension, social behaviour and social cognition. Regression analyses show that both word recognition and oral language explain unique variance in reading comprehension. Further, measures of social behaviour and social cognition predict reading comprehension after controlling for the variance explained by word recognition and oral language. This indicates that word recognition, oral language and social impairments may constrain reading comprehension in ASD

Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants.

Most genome-wide methylation studies (EWAS) of multifactorial disease traits use targeted arrays or enrichment methodologies preferentially covering CpG-dense regions, to characterize sufficiently large samples. To overcome this limitation, we present here a new customizable, cost-effective approach, methylC-capture sequencing (MCC-Seq), for sequencing functional methylomes, while simultaneously providing genetic variation information. To illustrate MCC-Seq, we use whole-genome bisulfite sequencing on adipose tissue (AT) samples and public databases to design AT-specific panels. We establish its efficiency for high-density interrogation of methylome variability by systematic comparisons with other approaches and demonstrate its applicability by identifying novel methylation variation within enhancers strongly correlated to plasma triglyceride and HDL-cholesterol, including at CD36. Our more comprehensive AT panel assesses tissue methylation and genotypes in parallel at ∼4 and ∼3 M sites, respectively. Our study demonstrates that MCC-Seq provides comparable accuracy to alternative approaches but enables more efficient cataloguing of functional and disease-relevant epigenetic and genetic variants for large-scale EWAS.This work was supported by a Canadian Institute of Health Research (CIHR) team grant awarded to E.G., A.T., M.C.V. and M.L. (TEC-128093) and the CIHR funded Epigeneome Mapping Centre at McGill University (EP1-120608) awarded to T.P. and M.L., and the Swedish Research Council, Knut and Alice Wallenberg Foundation and the Torsten Söderberg Foundation awarded to L.R. F.A. holds studentship from The Research Institute of the McGill University Health Center (MUHC). F.G. is a recipient of a research fellowship award from the Heart and Stroke Foundation of Canada. A.T. is the director of a Research Chair in Bariatric and Metabolic Surgery. M.C.V. is the recipient of the Canada Research Chair in Genomics Applied to Nutrition and Health (Tier 1). E.G. and T.P. are recipients of a Canada Research Chair Tier 2 award. The MuTHER Study was funded by a programme grant from the Wellcome Trust (081917/Z/07/Z) and core funding for the Wellcome Trust Centre for Human Genetics (090532). TwinsUK was funded by the Wellcome Trust; European Community's Seventh Framework Programme (FP7/2007-2013). The study also receives support from the National Institute for Health Research (NIHR)-funded BioResource, Clinical Research Facility and Biomedical Research Centre based at Guy's and St Thomas' NHS Foundation Trust in partnership with King's College London. T.D.S. is a holder of an ERC Advanced Principal Investigator award. SNP genotyping was performed by The Wellcome Trust Sanger Institute and National Eye Institute via NIH/CIDR. Finally, we thank the NIH Roadmap Epigenomics Consortium and the Mapping Centers (http://nihroadmap.nih.gov/epigenomics/) for the production of publicly available reference epigenomes. Specifically, we thank the mapping centre at MGH/BROAD for generation of human adipose reference epigenomes used in this study.This is the final version. It was first published by NPG at http://www.nature.com/ncomms/2015/150529/ncomms8211/full/ncomms8211.html#abstrac

Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1

Abdominal aortic aneurysm (AAA) is a common cause of morbidity and mortality and has a significant heritability. We carried out a genome-wide association discovery study of 1866 patients with AAA and 5435 controls and replication of promising signals (lead SNP with a p value &lt; 1 × 10-5) in 2871 additional cases and 32,687 controls and performed further follow-up in 1491 AAA and 11,060 controls. In the discovery study, nine loci demonstrated association with AAA (p &lt; 1 × 10-5). In the replication sample, the lead SNP at one of these loci, rs1466535, located within intron 1 of low-density-lipoprotein receptor-related protein 1 (LRP1) demonstrated significant association (p = 0.0042). We confirmed the association of rs1466535 and AAA in our follow-up study (p = 0.035). In a combined analysis (6228 AAA and 49182 controls), rs1466535 had a consistent effect size and direction in all sample sets (combined p = 4.52 × 10-10, odds ratio 1.15 [1.10-1.21]). No associations were seen for either rs1466535 or the 12q13.3 locus in independent association studies of coronary artery disease, blood pressure, diabetes, or hyperlipidaemia, suggesting that this locus is specific to AAA. Gene-expression studies demonstrated a trend toward increased LRP1 expression for the rs1466535 CC genotype in arterial tissues; there was a significant (p = 0.029) 1.19-fold (1.04-1.36) increase in LRP1 expression in CC homozygotes compared to TT homozygotes in aortic adventitia. Functional studies demonstrated that rs1466535 might alter a SREBP-1 binding site and influence enhancer activity at the locus. In conclusion, this study has identified a biologically plausible genetic variant associated specifically with AAA, and we suggest that this variant has a possible functional role in LRP1 expression

New genetic loci link adipose and insulin biology to body fat distribution.

Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms