Leveraging wall-sized high-resolution displays for comparative genomics analyses of copy number variation

The scale of comparative genomics data frequently overwhelms current data visualization methods on conventional (desktop) displays. This paper describes two types of solution that take advantage of wall-sized high-resolution displays (WHirDs), which have orders of magnitude more display real estate (i.e., pixels) than desktop displays. The first allows users to view detailed graphics of copy number variation (CNV) that were output by existing software. A WHirD's resolution allowed a 10× increase in the granularity of bioinformatics output that was feasible for users to visually analyze, and this revealed a pattern that had previously been smoothed out from the underlying data. The second involved interactive visualization software that was innovative because it uses a music score metaphor to lay out CNV data, overcomes a perceptual distortion caused by amplification/deletion thresholds, uses filtering to reduce graphical data overload, and is the first comparative genomics visualization software that is designed to leverage a WHirD's real estate. In a field evaluation, a clinical user discovered a fundamental error in the way their data had been processed, and established confidence in the software by using it to 'find' known genetic patterns in hepatitis C-driven hepatocellular cancer

Visual Analytics of Event Data using Multiple Mining Methods

Most researchers use a single method of mining to analyze event data. This paper uses case studies from two very differentdomains (electronic health records and cybersecurity) to investigate how researchers can gain breakthrough insights by com-bining multiple event mining methods in a visual analytics workflow. The aim of the health case study was to identify patternsof missing values, which was daunting because the 615 million missing values occurred in 43,219 combinations of fields. How-ever, a workflow that involved exclusive set intersections (ESI), frequent itemset mining (FIM) and then two more ESI stepsallowed us to identify that 82% of the missing values were from just 244 combinations. The cybersecurity case study’s aim wasto understand users’ behavior from logs that contained 300 types of action, gathered from 15,000 sessions and 1,400 users.Sequential frequent pattern mining (SFPM) and ESI highlighted some patterns in common, and others that were not. For thelatter, SFPM stood out for its ability to action sequences that were buried within otherwise different sessions, and ESI detectedsubtle signals that were missed by SFPM. In summary, this paper demonstrates the importance of using multiple perspectives,complementary set mining methods and a diverse workflow when using visual analytics to analyze complex event data

Chromosomal Assignment of a Family of Human Oncogenes

A family of human transforming genes, previously shown to share homology with the ras family of viral oncogenes, maps to three different human chromosomes. A well-characterized mouse-human hybrid cell panel, combined with Southern blotting, was used in this study. The transforming gene of the T24 bladder carcinoma cell line maps to human chromosome 11. An oncogene isolated from the lung carcinoma cell line SK-Calu-1 maps to human chromosome 12. The third ras-related gene, cloned from SK-N-SH, a neuroblastoma cell line, maps to human chromosome 1

Evidence for independent Hox gene duplications in the hagfish lineage: a PCR-based gene inventory of Eptatretus stoutii

Hox genes code for transcription factors that play a major role in the development of all animal phyla. In invertebrates these genes usually occur as tightly linked cluster, with a few exceptions where the clusters have been dissolved. Only in vertebrates multiple clusters have been demonstrated which arose by duplication from a single ancestral cluster. This history of Hox cluster duplications, in particular during the early elaboration of the vertebrate body plan, is still poorly understood. In this paper we report the results of a PCR survey on genomic DNA of the pacific hagfish Eptatretus stoutii. Hagfishes are one of two clades of recent jawless fishes that are an offshoot of the early radiation of jawless vertebrates. Our data provide evidence for at least 33 distinct Hox genes in the hagfish genome, which is most compatible with the hypothesis of multiple Hox clusters. The largest number, seven, of distinct homeobox fragments could be assigned to paralog group 9, which could imply that the hagfish has more than four clusters. Quartet mapping reveals that within each paralog group the hagfish sequences are statistically more closely related to gnathostome Hox genes than with either amphioxus or lamprey genes. These results support two assumptions about the history of Hox genes: (1) The association of hagfish homeobox sequences with gnathostome sequences suggests that at least one Hox cluster duplication event happened in the stem of vertebrates, i.e., prior to the most recent common ancestor of jawed and jawless vertebrates. (2) The high number of paralog group 9 sequences in hagfish and the phylogenetic position of hagfish suggests that the hagfish lineage underwent additional independent Hox cluster/-gene duplication events

The design and evaluation of interfaces for navigating gigapixel images in digital pathology

This paper describes the design and evaluation of two generations of an interface for navigating datasets of gigapixel images that pathologists use to diagnose cancer. The interface design is innovative because users panned with an overview:detail view scale difference that was up to 57 times larger than established guidelines, and 1 million pixel ‘thumbnail’ overviews that leveraged the real-estate of high resolution workstation displays. The research involved experts performing real work (pathologists diagnosing cancer), using datasets that were up to 3150 times larger than those used in previous studies that involved navigating images. The evaluation provides evidence about the effectiveness of the interfaces, and characterizes how experts navigate gigapixel images when performing real work. Similar interfaces could be adopted in applications that use other types of high-resolution images (e.g., remote sensing or highthroughput microscopy)

Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family

Purpose: To describe an Australian pedigree of European descent with a variable autosomal dominant phenotype of: pediatric cortical cataract (CC), asymmetric myopia with astigmatism, familial exudative vitreoretinopathy (FEVR), and primary open-angle glaucoma (POAG). Methods: Probands with CC, FEVR, and POAG were enrolled in three independent genetic eye studies in Tasmania. Genealogy confirmed these individuals were closely related and subsequent examination revealed 11 other family members with some or all of the associated disorders. Results: Twelve individuals had CC thought to be of childhood onset, with one child demonstrating progressive lenticular opacification. One individual had severe retinal detachment while five others had dragged retinal vessels. Seven individuals had POAG. Seven individuals had myopia in at least one eye ≤-3 Diopters. DNA testing excluded mutations in myocilin, trabecular meshwork inducible glucocorticoid response (MYOC) and tetraspanin 12 (TSPAN12). Haplotype analysis excluded frizzled family receptor 4 (FZD4) and low density lipoprotein receptor-related protein 5 (LRP5), but only partly excluded EVR3. Multipoint linkage analysis revealed multiple chromosomal single-nucleotide polymorphisms (SNPs) of interest, but no statistically significant focal localization. Conclusions: This unusual clustering of ophthalmic diseases suggests a possible single genetic cause for an apparently new cataract syndrome. This family’s clinical ocular features may reflect the interplay between retinal disease with lenticular changes and axial length in the development of myopia and glaucoma

Exploring the use of rapport in professional information‐gathering contexts by systematically mapping the evidence base

A growing body of research illustrates consensus between researchers and practitioners that developing rapport facilitates cooperation and disclosure in a range of professional information gathering contexts. In such contexts, rapport behaviors are often intentionally used in an attempt to facilitate a positive interaction with another adult, which may or may not result in genuine mutual rapport. To examine how rapport has been manipulated and measured in professional contexts we systematically mapped the relevant evidence-base in this field. For each of the 35 studies that met our inclusion criteria, behaviors associated with building rapport were coded in relation to whether they were verbal, non-verbal, or para-verbal. Methods to measure rapport were also coded and recorded, as were different types of disclosure. A Searchable Systematic Map was produced to catalogue key study characteristics. Discussion focuses on the underlying intention of the rapport behaviors that featured most frequently across studies