Integrative analysis of RNA, translation, and protein levels reveals distinct regulatory variation across humans.

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.

PowerSet: A Comprehensive Visualization of Set Intersections.

When analyzing a large amount of data, analysts often define groups over data elements that share certain properties. Using these groups as the unit of analysis not only reduces the data volume, but also allows detecting various patterns in the data. This involves analyzing intersection relations between these groups, and how the element attributes vary between these intersections. This kind of set-based analysis has various applications in a variety of domains, due to the generic and powerful notion of sets. However, visualizing intersections relations is challenging because their number grows exponentially with the number of sets. We present a novel technique based on Treemaps to provide a comprehensive overview of non-empty intersections in a set system in a scalable way. It enables gaining insight about how elements are distributed across these intersections as well as performing fine-grained analysis to explore and compare their attributes both in overview and in detail. Interaction allows querying and filtering these elements based on their set memberships. We demonstrate how our technique supports various use cases in data exploration and analysis by providing insights into set-based data, beyond the limits of state-of-the-art techniques.

Vials: Visualizing Alternative Splicing of Genes.

Alternative splicing is a process by which the same DNA sequence is used to assemble different proteins, called protein isoforms. Alternative splicing works by selectively omitting some of the coding regions (exons) typically associated with a gene. Detection of alternative splicing is difficult and uses a combination of advanced data acquisition methods and statistical inference. Knowledge about the abundance of isoforms is important for understanding both normal processes and diseases and to eventually improve treatment through targeted therapies. The data, however, is complex and current visualizations for isoforms are neither perceptually efficient nor scalable. To remedy this, we developed Vials, a novel visual analysis tool that enables analysts to explore the various datasets that scientists use to make judgments about isoforms: the abundance of reads associated with the coding regions of the gene, evidence for junctions, i.e., edges connecting the coding regions, and predictions of isoform frequencies. Vials is scalable as it allows for the simultaneous analysis of many samples in multiple groups. Our tool thus enables experts to (a) identify patterns of isoform abundance in groups of samples and (b) evaluate the quality of the data. We demonstrate the value of our tool in case studies using publicly available datasets.

Visual Methods for Analyzing Probabilistic Classification Data.

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.

TimeBench: a data model and software library for visual analytics of time-oriented data.

Time-oriented data play an essential role in many Visual Analytics scenarios such as extracting medical insights from collections of electronic health records or identifying emerging problems and vulnerabilities in network traffic. However, many software libraries for Visual Analytics treat time as a flat numerical data type and insufficiently tackle the complexity of the time domain such as calendar granularities and intervals. Therefore, developers of advanced Visual Analytics designs need to implement temporal foundations in their application code over and over again. We present TimeBench, a software library that provides foundational data structures and algorithms for time-oriented data in Visual Analytics. Its expressiveness and developer accessibility have been evaluated through application examples demonstrating a variety of challenges with time-oriented data and long-term developer studies conducted in the scope of research and student projects.

Radial sets: interactive visual analysis of large overlapping sets.

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.