Bioinformatics Commons^™

A Reliable Diabetic Retinopathy Grading Via Transfer Learning And Ensemble Learning With Quadratic Weighted Kappa Metric, Sai Venkatesh Chilukoti, Liqun Shan, Vijay Srinivas Tida, Anthony S. Maida, Xiali Hei

Computer Science Faculty Publications

The most common eye infection in people with diabetes is diabetic retinopathy (DR). It might cause blurred vision or even total blindness. Therefore, it is essential to promote early detection to prevent or alleviate the impact of DR. However, due to the possibility that symptoms may not be noticeable in the early stages of DR, it is difficult for doctors to identify them. Therefore, numerous predictive models based on machine learning (ML) and deep learning (DL) have been developed to determine all stages of DR. However, existing DR classification models cannot classify every DR stage or use a computationally heavy …

Motif-Cluster: A Spatial Clustering Package For Repetitive Motif Binding Patterns, Mengyuan Zhou

Department of Computer Science and Engineering: Dissertations, Theses, and Student Research

Previous efforts in using genome-wide analysis of transcription factor binding sites (TFBSs) have overlooked the importance of ranking potential significant regulatory regions, especially those with repetitive binding within a local region. Identifying these homogenous binding sites is critical because they have the potential to amplify the binding affinity and regulation activity of transcription factors, impacting gene expression and cellular functions. To address this issue, we developed an open-source tool Motif-Cluster that prioritizes and visualizes transcription factor regulatory regions by incorporating the idea of local motif clusters. Motif-Cluster can rank the significant transcription factor regulatory regions without the need for experimental …

Teloportwrapper: A New Tool For Understanding The Dynamic World Of Fungal Telomere Ends, Trey Stansfield

Mahurin Honors College Capstone Experience/Thesis Projects

Telomeres are repetitive DNA sequence motifs found at eukaryote chromosome ends. Telomeres help protect chromosome ends from DNA damage and promote chromosome stability. Chromosomes play important roles in aging, mutation, and cancer. Eukaryotic pathogens also use telomeres to mutate and manage virulence genes. In response to chromosome end breakage newly formed telomeres, called de novo telomeres, are formed to recreate the lost telomere and sub-telomeric regions.

Magnaporthe oryzae is a fungal pathogen which causes wheat blast, a deadly plant disease in wheat. Magnaporthe oryzae is also known for its highly variable sub-regions which show high amounts of induced variability due …

Ubjective Information And Survival In A Simulated Biological System, Tyler S. Barker, Massimiliano Pierobon, Peter J. Thomas

School of Computing: Faculty Publications

Information transmission and storage have gained traction as unifying concepts to characterize biological systems and their chances of survival and evolution at multiple scales. Despite the potential for an information-based mathematical framework to offer new insights into life processes and ways to interact with and control them, the main legacy is that of Shannon’s, where a purely syntactic characterization of information scores systems on the basis of their maximum information efficiency. The latter metrics seem not entirely suitable for biological systems, where transmission and storage of different pieces of information (carrying different semantics) can result in different chances of survival. …

A Machine Learning Framework For Identifying Molecular Biomarkers From Transcriptomic Cancer Data, Md Abdullah Al Mamun

FIU Electronic Theses and Dissertations

Cancer is a complex molecular process due to abnormal changes in the genome, such as mutation and copy number variation, and epigenetic aberrations such as dysregulations of long non-coding RNA (lncRNA). These abnormal changes are reflected in transcriptome by turning oncogenes on and tumor suppressor genes off, which are considered cancer biomarkers.

However, transcriptomic data is high dimensional, and finding the best subset of genes (features) related to causing cancer is computationally challenging and expensive. Thus, developing a feature selection framework to discover molecular biomarkers for cancer is critical.

Traditional approaches for biomarker discovery calculate the fold change for each …

Bone Quality And Fractures In Women With Osteoporosis Treated With Bisphosphonates For 1 To 14 Years, Hartmut H. Malluche, Jin Chen, Florence Lima, Lucas J. Liu, Marie-Claude Monier-Faugere, David A. Pienkowski

Internal Medicine Faculty Publications

Oral bisphosphonates are the primary medication for osteoporosis, but concerns exist regarding potential bone-quality changes or low-energy fractures. This cross-sectional study used artificial intelligence methods to analyze relationships among bisphosphonate treatment duration, a wide variety of bone-quality parameters, and low-energy fractures. Fourier transform infrared spectroscopy and histomorphometry quantified bone-quality parameters in 67 osteoporotic women treated with oral bisphosphonates for 1 to 14 years. Artificial intelligence methods established two models relating bisphosphonate treatment duration to bone-quality changes and to low-energy clinical fractures. The model relating bisphosphonate treatment duration to bone quality demonstrated optimal performance when treatment durations of 1 to 8 …

Graph-Theoretic Partitioning Of Rnas And Classification Of Pseudoknots-Ii, Louis Petingi

Publications and Research

Dual graphs have been applied to model RNA secondary structures with pseudoknots, or intertwined base pairs. In previous works, a linear-time algorithm was introduced to partition dual graphs into maximally connected components called blocks and determine whether each block contains a pseudoknot or not. As pseudoknots can not be contained into two different blocks, this characterization allow us to efficiently isolate smaller RNA fragments and classify them as pseudoknotted or pseudoknot-free regions, while keeping these sub-structures intact. Moreover we have extended the partitioning algorithm by classifying a pseudoknot as either recursive or non-recursive in order to continue with our research …

Extending Import Detection Algorithms For Concept Import From Two To Three Biomedical Terminologies, Vipina K. Keloth, James Geller, Yan Chen, Julia Xu

Publications and Research

Background: While enrichment of terminologies can be achieved in different ways, filling gaps in the IS-A hierarchy backbone of a terminology appears especially promising. To avoid difficult manual inspection, we started a research program in 2014, investigating terminology densities, where the comparison of terminologies leads to the algorithmic discovery of potentially missing concepts in a target terminology. While candidate concepts have to be approved for import by an expert, the human effort is greatly reduced by algorithmic generation of candidates. In previous studies, a single source terminology was used with one target terminology.

Methods: In this paper, we are extending …

Literature Retrieval For Precision Medicine With Neural Matching And Faceted Summarization, Jiho Noh, Ramakanth Kavuluru

Institute for Biomedical Informatics Faculty Publications

Information retrieval (IR) for precision medicine (PM) often involves looking for multiple pieces of evidence that characterize a patient case. This typically includes at least the name of a condition and a genetic variation that applies to the patient. Other factors such as demographic attributes, comorbidities, and social determinants may also be pertinent. As such, the retrieval problem is often formulated as ad hoc search but with multiple facets (e.g., disease, mutation) that may need to be incorporated. In this paper, we present a document reranking approach that combines neural query-document matching and text summarization toward such retrieval scenarios. Our …

Deepfrag-K: A Fragment-Based Deep Learning Approach For Protein Fold Recognition, Wessam Elhefnawy, Min Li, Jianxin Wang, Yaohang Li

Computer Science Faculty Publications

Background: One of the most essential problems in structural bioinformatics is protein fold recognition. In this paper, we design a novel deep learning architecture, so-called DeepFrag-k, which identifies fold discriminative features at fragment level to improve the accuracy of protein fold recognition. DeepFrag-k is composed of two stages: the first stage employs a multi-modal Deep Belief Network (DBN) to predict the potential structural fragments given a sequence, represented as a fragment vector, and then the second stage uses a deep convolutional neural network (CNN) to classify the fragment vector into the corresponding fold.

Results: Our results show that DeepFrag-k yields …

Integrated Multiparametric Radiomics And Informatics System For Characterizing Breast Tumor Characteristics With The Oncotypedx Gene Assay, Michael A. Jacobs, Christopher B. Umbricht, Vishwa S. Parekh, Riham H. El Khouli, Leslie Cope, Katarzyna J. Macura, Susan Harvey, Antonio C. Wolff

Radiology Faculty Publications

Optimal use of multiparametric magnetic resonance imaging (mpMRI) can identify key MRI parameters and provide unique tissue signatures defining phenotypes of breast cancer. We have developed and implemented a new machine-learning informatic system, termed Informatics Radiomics Integration System (IRIS) that integrates clinical variables, derived from imaging and electronic medical health records (EHR) with multiparametric radiomics (mpRad) for identifying potential risk of local or systemic recurrence in breast cancer patients. We tested the model in patients (n = 80) who had Estrogen Receptor positive disease and underwent OncotypeDX gene testing, radiomic analysis, and breast mpMRI. The IRIS method was trained …

Timing Of Maximal Weight Reduction Following Bariatric Surgery: A Study In Chinese Patients, Ting Xu, Chen Wang, Hongwei Zhang, Xiaodong Han, Weijie Liu, Junfeng Han, Haoyong Yu, Jin Chen, Pin Zhang, Jianzhong Di

Computer Science Faculty Publications

Introduction: Bariatric surgery is a well-received treatment for obesity with maximal weight loss at 12–36 months postoperatively. We investigated the effect of early bariatric surgery on weight reduction of Chinese patients in accordance with their preoperation characteristics.

Materials and Methods: Altogether, 409 patients with obesity from a prospective cohort in a single bariatric center were enrolled retrospectively and evaluated for up to 4 years. Measurements obtained included surgery type, duration of diabetic condition, besides the usual body mass index data tuple. Weight reduction was expressed as percent total weight loss (%TWL) and percent excess weight loss (%EWL).

Results: RYGB or …

Causality In Microbiomes, Md Musfiqur Rahman Sazal

FIU Electronic Theses and Dissertations

No abstract provided.

Β-Amyloid And Tau Drive Early Alzheimer's Disease Decline While Glucose Hypometabolism Drives Late Decline, Tyler C. Hammond, Xin Xing, Chris Wang, David Ma, Kwangsik Nho, Paul K. Crane, Fanny Elahi, David A. Ziegler, Gongbo Liang, Qiang Cheng, Lucille M. Yanckello, Nathan Jacobs, Ai-Ling Lin

Sanders-Brown Center on Aging Faculty Publications

Clinical trials focusing on therapeutic candidates that modify β-amyloid (Aβ) have repeatedly failed to treat Alzheimer’s disease (AD), suggesting that Aβ may not be the optimal target for treating AD. The evaluation of Aβ, tau, and neurodegenerative (A/T/N) biomarkers has been proposed for classifying AD. However, it remains unclear whether disturbances in each arm of the A/T/N framework contribute equally throughout the progression of AD. Here, using the random forest machine learning method to analyze participants in the Alzheimer’s Disease Neuroimaging Initiative dataset, we show that A/T/N biomarkers show varying importance in predicting AD development, with elevated biomarkers of Aβ …

Introduction To The R-Package: Usdampr, Elliott James Dennis, Bowen Chen

Extension Farm and Ranch Management News

Why the Need for the Package? In the 1990’s, concern over growing packer concentration and a hog industry market shock resulted in discontent among producers and packers. As a result, the United States Congress passed the Livestock Mandatory Reporting Act of 1999 (1999 Act) [Pub. L. 106-78, Title IX] which is required to be reauthorized every five years. See here for a full history of the Livestock Mandatory Reporting Background.

Market reports were publicly issued in the form of .txt files with varying frequency from April 2000 to April 2020. Current and historical data were also housed in a USDA-AMS …

Inflammatory Bowel Disease Diagnosis Using Metagenomic Classification, Michael Riggle

Masters Theses & Specialist Projects

Inflammatory bowel disease (IBD) is a set of disorders that involve chronic inflammation of digestive tracts, e.g., Crohn's disease (CD) and ulcerative colitis (UC). Millions of people around the world have inflammatory bowel disease. However, it is still difficult to treat IBD due to its unknown cause. In fact, accurately diagnosing inflammatory bowel disease (IBD) can be very challenging too since some of IBD symptoms can mimic those of other conditions. In this work, we apply classification methods to help improve the success rate of diagnosis. We study four formulations of IBD classification: i) IBD and non-IBD (binary classification), ii) …

Repositories For Taxonomic Data: Where We Are And What Is Missing, Aurélian Miralles, Teddy Bruy, Katherine Wolcott, Mark D. Scherz, Dominik Begerow, Bank Beszteri, Michael Bonkowski, Janine Felden, Birgit Gemeinholzer, Frank Glaw, Frank Oliver Glöckner, Oliver Hawlitschek, Ivaylo Kostadinov, Tim W. Nattkemper, Christian Printzen, Jasmin Renz, Nataliya Rybalka, Marc Stadler, Tanja Weibulat, Thomas Wilke, Susanne S. Renner, Miguel Vences

Harold W. Manter Laboratory: Library Materials

Natural history collections are leading successful large-scale projects of specimen digitization (images, metadata, DNA barcodes), thereby transforming taxonomy into a big data science. Yet, little effort has been directed towards safeguarding and subsequently mobilizing the considerable amount of original data generated during the process of naming 15,000–20,000 species every year. From the perspective of alpha-taxonomists, we provide a review of the properties and diversity of taxonomic data, assess their volume and use, and establish criteria for optimizing data repositories. We surveyed 4,113 alpha-taxonomic studies in representative journals for 2002, 2010, and 2018, and found an increasing yet comparatively limited use …

Enhancing Timeliness Of Drug Overdose Mortality Surveillance: A Machine Learning Approach, Patrick J. Ward, Peter J. Rock, Svetla Slavova, April M. Young, Terry L. Bunn, Ramakanth Kavuluru

Kentucky Injury Prevention and Research Center Faculty Publications

BACKGROUND: Timely data is key to effective public health responses to epidemics. Drug overdose deaths are identified in surveillance systems through ICD-10 codes present on death certificates. ICD-10 coding takes time, but free-text information is available on death certificates prior to ICD-10 coding. The objective of this study was to develop a machine learning method to classify free-text death certificates as drug overdoses to provide faster drug overdose mortality surveillance.

METHODS: Using 2017–2018 Kentucky death certificate data, free-text fields were tokenized and features were created from these tokens using natural language processing (NLP). Word, bigram, and trigram features were created …

Iamhappy: Towards An Iot Knowledge-Based Cross-Domain Well-Being Recommendation System For Everyday Happiness, Amelia Gyrard, Amit Sheth

Kno.e.sis Publications

Nowadays, healthy lifestyle, fitness, and diet habits have become central applications in our daily life. Positive psychology such as well-being and happiness is the ultimate dream of everyday people’s feelings (even without being aware of it). Wearable devices are being increasingly employed to support well-being and fitness. Those devices produce physiological signals that are analyzed by machines to understand emotions and physical state. The Internetof Things (IoT) technology connects (wearable) devices to the Internet to easily access and process data, even using Web technologies (aka Web of Things).

We design IAMHAPPY, an innovative IoT-based well-being recommendation system to encourage every …

Simplicity Diffexpress: A Bespoke Cloud-Based Interface For Rna-Seq Differential Expression Modeling And Analysis, Cintia C. Palu, Marcelo Ribeiro-Alves, Yanxin Wu, Brendan Lawlor, Pavel V. Baranov, Brian Kelly, Paul Walsh

Department of Computer Science Publications

One of the key challenges for transcriptomics-based research is not only the processing of large data but also modeling the complexity of features that are sources of variation across samples, which is required for an accurate statistical analysis. Therefore, our goal is to foster access for wet lab researchers to bioinformatics tools, in order to enhance their ability to explore biological aspects and validate hypotheses with robust analysis. In this context, user-friendly interfaces can enable researchers to apply computational biology methods without requiring bioinformatics expertise. Such bespoke platforms can improve the quality of the findings by allowing the researcher to …

Designing Computational Biology Workflows With Perl - Part 1, Esma Yildirim

Open Educational Resources

This material introduces Linux File System structures and demonstrates how to use commands to communicate with the operating system through a Terminal program. Basic program structures and system() function of Perl are discussed. A brief introduction to gene-sequencing terminology and file formats are given.

Designing Computational Biology Workflows With Perl - Part 1, Esma Yildirim

Open Educational Resources

This material introduces the AWS console interface, describes how to create an instance on AWS with the VMI provided, connect to that machine instance using the SSH protocol. Once connected, it requires the students to write a script to enter the data folder, which includes gene-sequencing input files and print the first five line of each file remotely. The same exercise can be applied if the VMI is installed on a local machine using virtualization software (e.g. Oracle VirtualBox). In this case, the Terminal program of the VMI can be used to do the exercise.

Designing Computational Biology Workflows With Perl - Part 2, Esma Yildirim

Open Educational Resources

This material introduces the AWS console interface, describes how to create an instance on AWS with the VMI provided and connect to that machine instance using the SSH protocol. Once connected, it requires the students to write a script to automate the tasks to create VCF files from two different sample genomes belonging to E.coli microorganisms by using the FASTA and FASTQ files in the input folder of the virtual machine. The same exercise can be applied if the VMI is installed on a local machine using virtualization software (e.g. Oracle VirtualBox). In this case, the Terminal program of the …

Designing Computational Biology Workflows With Perl - Part 2, Esma Yildirim

Open Educational Resources

This material briefly reintroduces the DNA double Helix structure, explains SNP and INDEL mutations in genes and describes FASTA, FASTQ, BAM and VCF file formats. It also explains the index creation, alignment, sorting, marking duplicates and variant calling steps of a simple preprocessing workflow and how to write a Perl script to automate the execution of these steps on a Virtual Machine Image.

Designing Computational Biology Workflows With Perl - Part 1 & 2, Esma Yildirim

Open Educational Resources

This manual guides the instructor to combine the partial files of the virtual machine image and construct sequencer.ova file. It is accompanied by the partial files of the virtual machine image.

Computational Analysis Of Large-Scale Trends And Dynamics In Eukaryotic Protein Family Evolution, Joseph Boehm Ahrens

FIU Electronic Theses and Dissertations

The myriad protein-coding genes found in present-day eukaryotes arose from a combination of speciation and gene duplication events, spanning more than one billion years of evolution. Notably, as these proteins evolved, the individual residues at each site in their amino acid sequences were replaced at markedly different rates. The relationship between protein structure, protein function, and site-specific rates of amino acid replacement is a topic of ongoing research. Additionally, there is much interest in the different evolutionary constraints imposed on sequences related by speciation (orthologs) versus sequences related by gene duplication (paralogs). A principal aim of this dissertation is to …

Question Answering For Suicide Risk Assessment Using Reddit, Amanuel Alambo, Usha Lokala, Ugur Kursuncu, Krishnaprasad Thirunarayan, Amelia Gyrard, Randon S. Welton, Jyotishman Pathak, Amit P. Sheth

Kno.e.sis Publications

Mental Health America designed ten questionnaires that are used to determine the risk of mental disorders. They are also commonly used by Mental Health Professionals (MHPs) to assess suicidality. Specifically, the Columbia Suicide Severity Rating Scale (C-SSRS), a widely used suicide assessment questionnaire, helps MHPs determine the severity of suicide risk and offer an appropriate treatment. A major challenge in suicide treatment is the social stigma wherein the patient feels reluctance in discussing his/her conditions with an MHP, which leads to inaccurate assessment and treatment of patients. On the other hand, the same patient is comfortable freely discussing his/her mental …

Empathi: An Ontology For Emergency Managing And Planning About Hazard Crisis, Manas Gaur, Kaeedeh Shekarpour, Amelia Gyrard, Amit P. Sheth

Kno.e.sis Publications

In the domain of emergency management during hazard crises, having sufficient situational awareness information is critical. It requires capturing and integrating information from sources such as satellite images, local sensors and social media content generated by local people.
A bold obstacle to capturing, representing and integrating such heterogeneous and diverse information is lack of a proper ontology which properly conceptualizes this domain, aggregates and unifies datasets. Thus, in this paper, we introduce empathi ontology which conceptualizes the core concepts describing the domain of emergency managing and planning of hazard crises.
Although empathi has a coarse-grained view, it considers the necessary …

Adaptive Knowledge Networks: A Time Capsule, Swati Padhee, Anurag Illendula, Amit Sheth, Krishnaprasad Thirunarayan, Valerie L. Shalin

Kno.e.sis Publications

❖ Real world events are dynamic in nature Periodic events e.g. US Presidential Election Non-periodic events e.g. Cyclone Idai

❖ Need for real-time predictive analysis, trend analysis, spatio-temporal decision making, public opinion analysis for events.

❖ Current state-of-the-art curates dynamic knowledge graph from structured text.

❖ We propose creating an Adaptive Knowledge Network from incoming real-time multimodal spatio-temporally evolving data.

Automatic Identification Of Individual Drugs In Death Certificates, Soon Jye Kho, Amit Sheth, Olivier Bodenreider

Kno.e.sis Publications

Background:

Establishing trends of drug overdoses requires the identification of individual drugs in death certificates, not supported by coding with the International Classification of Diseases. However, identifying drug mentions from the literal portion of death certificates remains challenging due to the variability of drug names.

Objectives:

To automatically identify individual drugs in death certificates.

Methods:

We use RxNorm to collect variants for drug names (generic names, synonyms, brand names) and we algorithmically generate common misspellings. We use this automatically compiled list to identify drug mentions from 703,106 death certificates and compare the performance of our automated approach to that of …