Elucidating the consequences of genetic differences between humans is essential for understanding phenotypic diversity and personalized medicine. Although variation in RNA levels, transcription factor binding, and chromatin have been explored, little is known about global variation in translation and its genetic determinants. We used ribosome profiling, RNA sequencing, and mass spectrometry to perform an integrated analysis in lymphoblastoid cell lines from a diverse group of individuals. We find significant differences in RNA, translation, and protein levels suggesting diverse mechanisms of personalized gene expression control. Combined analysis of RNA expression and ribosome occupancy improves the identification of individual protein level differences. Finally, we identify genetic differences that specifically modulate ribosome occupancy-many of these differences lie close to start codons and upstream ORFs. Our results reveal a new level of gene expression variation among humans and indicate that genetic variants can cause changes in protein levels through effects on translation.

Convolutional Neural Networks (CNNs) currently achieve state-of-the-art accuracy in image classification. With a growing number of classes, the accuracy usually drops as the possibilities of confusion increase. Interestingly, the class confusion patterns follow a hierarchical structure over the classes. We present visual-analytics methods to reveal and analyze this hierarchy of similar classes in relation with CNN-internal data. We found that this hierarchy not only dictates the confusion patterns between the classes, it furthermore dictates the learning behavior of CNNs. In particular, the early layers in these networks develop feature detectors that can separate high-level groups of classes quite well, even after a few training epochs. In contrast, the latter layers require substantially more epochs to develop specialized feature detectors that can separate individual classes. We demonstrate how these insights are key to significant improvement in accuracy by designing hierarchy-aware CNNs that accelerate model convergence and alleviate overfitting. We further demonstrate how our methods help in identifying various quality issues in the training data.

Sets comprise a generic data model that has been used in a variety of data analysis problems. Such problems involve analysing and visualizing set relations between multiple sets defined over the same collection of elements. However, visualizing sets is a non-trivial problem due to the large number of possible relations between them. We provide a systematic overview of state-of-the-art techniques for visualizing different kinds of set relations. We classify these techniques into six main categories according to the visual representations they use and the tasks they support. We compare the categories to provide guidance for choosing an appropriate technique for a given problem. Finally, we identify challenges in this area that need further research and propose possible directions to address these challenges. Further resources on set visualization are available at http://www.setviz.net.

Multi-class classifiers often compute scores for the classification samples describing probabilities to belong to different classes. In order to improve the performance of such classifiers, machine learning experts need to analyze classification results for a large number of labeled samples to find possible reasons for incorrect classification. Confusion matrices are widely used for this purpose. However, they provide no information about classification scores and features computed for the samples. We propose a set of integrated visual methods for analyzing the performance of probabilistic classifiers. Our methods provide insight into different aspects of the classification results for a large number of samples. One visualization emphasizes at which probabilities these samples were classified and how these probabilities correlate with classification error in terms of false positives and false negatives. Another view emphasizes the features of these samples and ranks them by their separation power between selected true and false classifications. We demonstrate the insight gained using our technique in a benchmarking classification dataset, and show how it enables improving classification performance by interactively defining and evaluating post-classification rules.

In many applications, data tables contain multi-valued attributes that often store the memberships of the table entities to multiple sets such as which languages a person masters, which skills an applicant documents, or which features a product comes with. With a growing number of entities, the resulting element-set membership matrix becomes very rich of information about how these sets overlap. Many analysis tasks targeted at set-typed data are concerned with these overlaps as salient features of such data. This paper presents Radial Sets, a novel visual technique to analyze set memberships for a large number of elements. Our technique uses frequency-based representations to enable quickly finding and analyzing different kinds of overlaps between the sets, and relating these overlaps to other attributes of the table entities. Furthermore, it enables various interactions to select elements of interest, find out if they are over-represented in specific sets or overlaps, and if they exhibit a different distribution for a specific attribute compared to the rest of the elements. These interactions allow formulating highly-expressive visual queries on the elements in terms of their set memberships and attribute values. As we demonstrate via two usage scenarios, Radial Sets enable revealing and analyzing a multitude of overlapping patterns between large sets, beyond the limits of state-of-the-art techniques.