Medicine and Health Sciences Commons^™

Npgreat: Assembly Of The Human Subtelomere Regions With The Use Of Ultralong Nanopore Reads And Linked Reads, Eleni Adam, Desh Ranjan, Harold Riethman

Computer Science Faculty Publications

Background: Human subtelomeric DNA regulates the length and stability of adjacent telomeres that are critical for cellular function, and contains many gene/pseudogene families. Large evolutionarily recent segmental duplications and associated structural variation in human subtelomeres has made complete sequencing and assembly of these regions difficult to impossible for many loci, complicating or precluding a wide range of genetic analyses to investigate their function.

Results: We present a hybrid assembly method, NanoPore Guided REgional Assembly Tool (NPGREAT), which combines Linked-Read data with mapped ultralong nanopore reads spanning subtelomeric segmental duplications to potentially overcome these difficulties. Linked-Read sets of DNA sequences identified …

Spaghetti Tracer: A Framework For Tracing Semiregular Filamentous Densities In 3d Tomograms, Salim Sazzed, Peter Scheible, Jing He, Willy Wriggers

Computer Science Faculty Publications

Within cells, cytoskeletal filaments are often arranged into loosely aligned bundles. These fibrous bundles are dense enough to exhibit a certain regularity and mean direction, however, their packing is not sufficient to impose a symmetry between—or specific shape on—individual filaments. This intermediate regularity is computationally difficult to handle because individual filaments have a certain directional freedom, however, the filament densities are not well segmented from each other (especially in the presence of noise, such as in cryo-electron tomography). In this paper, we develop a dynamic programming-based framework, Spaghetti Tracer, to characterizing the structural arrangement of filaments in the challenging 3D …

Introducing A Real-Time Advanced Eye Movements Analysis Pipeline, Gavindya Jayawardana

Computer Science Faculty Publications

Real-Time Advanced Eye Movements Analysis Pipeline (RAEMAP) is an advanced pipeline to analyze traditional positional gaze measurements as well as advanced eye gaze measurements. The proposed implementation of RAEMAP includes real-time analysis of fixations, saccades, gaze transition entropy, and low/high index of pupillary activity. RAEMAP will also provide visualizations of fixations, fixations on AOIs, heatmaps, and dynamic AOI generation in real-time. This paper outlines the proposed architecture of RAEMAP.

Completing Single-Cell Dna Methylome Profiles Via Transfer Learning Together With Kl-Divergence, Sanjeeva Dodlapati, Zongliang Jiang, Jiangwen Sun

Computer Science Faculty Publications

The high level of sparsity in methylome profiles obtained using whole-genome bisulfite sequencing in the case of low biological material amount limits its value in the study of systems in which large samples are difficult to assemble, such as mammalian preimplantation embryonic development. The recently developed computational methods for addressing the sparsity by imputing missing have their limits when the required minimum data coverage or profiles of the same tissue in other modalities are not available. In this study, we explored the use of transfer learning together with Kullback-Leibler (KL) divergence to train predictive models for completing methylome profiles with …

Loss Of Acta2 In Cardiac Fibroblasts Does Not Prevent The Myofibroblast Differentiation Or Affect The Cardiac Repair After Myocardial Infarction, Yuxia Li, Chaoyang Li, Qianglin Liu, Leshan Wang, Adam X. Bao, Jangwook P. Jung, Sanjeev Dodlapati, Jingwen Sun, Peidong Gao, Xujia Zhang, Joseph Francis, Jeffery D. Molkentin, Xing Fu

Computer Science Faculty Publications

In response to myocardial infarction (MI), quiescent cardiac fibroblasts differentiate into myofibroblasts mediating tissue repair. One of the most widely accepted markers of myofibroblast differentiation is the expression of Acta2 which encodes smooth muscle alpha-actin (SMαA) that is assembled into stress fibers. However, the requirement of Acta2/SMαA in the myofibroblast differentiation of cardiac fibroblasts and its role in post-MI cardiac repair remained unknown. To answer these questions, we generated a tamoxifen-inducible cardiac fibroblast-specific Acta2 knockout mouse line. Surprisingly, mice that lacked Acta2 in cardiac fibroblasts had a normal post-MI survival rate. Moreover, Acta2 deletion did …

Toward A Real-Time Index Of Pupillary Activity As An Indicator Of Cognitive Load, Gavindya Jayawardena, Yasith Jayawardana, Sampath Jayarathna, Jonas Högström, Thomas Papa, Deepak Akkil, Andrew T. Duchowski, Vsevolod Peysakhovich, Izabela Krejtz, Nina Gehrer, Krzysztof Krejtz

Computer Science Faculty Publications

The Low/High Index of Pupillary Activity (LHIPA), an eye-tracked measure of pupil diameter oscillation, is redesigned and implemented to function in real-time. The novel Real-time IPA (RIPA) is shown to discriminate cognitive load in re-streamed data from earlier experiments. Rationale for the RIPA is tied to the functioning of the human autonomic nervous system yielding a hybrid measure based on the ratio of Low/High frequencies of pupil oscillation. The paper's contribution is drawn from provision of documentation of the calculation of the RIPA. As with the LHIPA, it is possible for researchers to apply this metric to their own experiments …

Eye Movement And Pupil Measures: A Review, Bhanuka Mahanama, Yasith Jayawardana, Sundararaman Rengarajan, Gavindya Jayawardena, Leanne Chukoskie, Joseph Snider, Sampath Jayarathna

Computer Science Faculty Publications

Our subjective visual experiences involve complex interaction between our eyes, our brain, and the surrounding world. It gives us the sense of sight, color, stereopsis, distance, pattern recognition, motor coordination, and more. The increasing ubiquity of gaze-aware technology brings with it the ability to track gaze and pupil measures with varying degrees of fidelity. With this in mind, a review that considers the various gaze measures becomes increasingly relevant, especially considering our ability to make sense of these signals given different spatio-temporal sampling capacities. In this paper, we selectively review prior work on eye movements and pupil measures. We first …

Refinement Of Alphafold2 Models Against Experimental And Hybrid Cryo-Em Density Maps, Maytha Alshammari, Willy Wriggers, Jiangwen Sun, Jing He

Computer Science Faculty Publications

Recent breakthroughs in deep learning-based protein structure prediction show that it is possible to obtain highly accurate models for a wide range of difficult protein targets for which only the amino acid sequence is known. The availability of accurately predicted models from sequences can potentially revolutionise many modelling approaches in structural biology, including the interpretation of cryo-EM density maps. Although atomic structures can be readily solved from cryo-EM maps of better than 4 Å resolution, it is still challenging to determine accurate models from lower-resolution density maps. Here, we report on the benefits of models predicted by AlphaFold2 (the best-performing …