Data Science Commons^™

Fast Inference Of Genetic Recombination Rates In Biobank Scale Data, Ardalan Naseri, William Yue, Shaojie Zhang, Degui Zhi

Faculty, Staff and Student Publications

Although rates of recombination events across the genome (genetic maps) are fundamental to genetic research, the majority of current studies only use one standard map. There is evidence suggesting population differences in genetic maps, and thus estimating population-specific maps, are of interest. Although the recent availability of biobank-scale data offers such opportunities, current methods are not efficient at leveraging very large sample sizes. The most accurate methods are still linkage disequilibrium (LD)-based methods that are only tractable for a few hundred samples. In this work, we propose a fast and memory-efficient method for estimating genetic maps from population genotyping data. …

Ideology Prediction From Scarce And Biased Supervision: Learn To Disregard The “What” And Focus On The “How”!, Chen Chen, Dylan Walker, Venkatesh Saligrama

Business Faculty Articles and Research

We propose a novel supervised learning approach for political ideology prediction (PIP) that is capable of predicting out-of-distribution inputs. This problem is motivated by the fact that manual data-labeling is expensive, while self-reported labels are often scarce and exhibit significant selection bias. We propose a novel statistical model that decomposes the document embeddings into a linear superposition of two vectors; a latent neutral context vector independent of ideology, and a latent position vector aligned with ideology. We train an end-to-end model that has intermediate contextual and positional vectors as outputs. At deployment time, our model predicts labels for input documents …

Multi-Task Learning With Dynamic Re-Weighting To Achieve Fairness In Healthcare Predictive Modeling, Can Li, Sirui Ding, Na Zou, Xia Hu, Xiaoqian Jiang, Kai Zhang

Faculty, Staff and Student Publications

The emphasis on fairness in predictive healthcare modeling has increased in popularity as an approach for overcoming biases in automated decision-making systems. The aim is to guarantee that sensitive characteristics like gender, race, and ethnicity do not influence prediction outputs. Numerous algorithmic strategies have been proposed to reduce bias in prediction results, mitigate prejudice toward minority groups and promote prediction fairness. The goal of these strategies is to ensure that model prediction performance does not exhibit significant disparity among sensitive groups. In this study, we propose a novel fairness-achieving scheme based on multitask learning, which fundamentally differs from conventional fairness-achieving …

Weakly Supervised Spatial Relation Extraction From Radiology Reports, Surabhi Datta, Kirk Roberts

Faculty, Staff and Student Publications

OBJECTIVE: Weak supervision holds significant promise to improve clinical natural language processing by leveraging domain resources and expertise instead of large manually annotated datasets alone. Here, our objective is to evaluate a weak supervision approach to extract spatial information from radiology reports.

MATERIALS AND METHODS: Our weak supervision approach is based on data programming that uses rules (or labeling functions) relying on domain-specific dictionaries and radiology language characteristics to generate weak labels. The labels correspond to different spatial relations that are critical to understanding radiology reports. These weak labels are then used to fine-tune a pretrained Bidirectional Encoder Representations from …

Minimal Positional Substring Cover Is A Haplotype Threading Alternative To Li And Stephens Model, Ahsan Sanaullah, Degui Zhi, Shaojie Zhang

Faculty, Staff and Student Publications

The Li and Stephens (LS) hidden Markov model (HMM) models the process of reconstructing a haplotype as a mosaic copy of haplotypes in a reference panel. For small panels, the probabilistic parameterization of LS enables modeling the uncertainties of such mosaics. However, LS becomes inefficient when sample size is large, because of its linear time complexity. Recently the PBWT, an efficient data structure capturing the local haplotype matching among haplotypes, was proposed to offer a fast method for giving some optimal solution (Viterbi) to the LS HMM. Previously, we introduced the minimal positional substring cover (MPSC) problem as an alternative …

Privacy Preserving Identification Of Population Stratification For Collaborative Genomic Research, Leonard Dervishi, Wenbiao Li, Anisa Halimi, Xiaoqian Jiang, Jaideep Vaidya, Erman Ayday

Faculty, Staff and Student Publications

The rapid improvements in genomic sequencing technology have led to the proliferation of locally collected genomic datasets. Given the sensitivity of genomic data, it is crucial to conduct collaborative studies while preserving the privacy of the individuals. However, before starting any collaborative research effort, the quality of the data needs to be assessed. One of the essential steps of the quality control process is population stratification: identifying the presence of genetic difference in individuals due to subpopulations. One of the common methods used to group genomes of individuals based on ancestry is principal component analysis (PCA). In this article, we …

Unraveling The Neural Basis Of Emotions: Advancing Understanding With Ecologically Valid Paradigms And High-Resolution Intracranial Eeg, Tiankang Xie

Dartmouth College Ph.D Dissertations

Background

Emotion arises from integrating information about the external world with memories of past experiences, current homeostatic states, and future goals. They play a vital role in regulating our thoughts, feelings and behaviors, significantly impacting our mental health. Thus, it is important to understand the neurobiological mechanisms that give rise to emotions. While there has been considerable work investigating the neural basis of emotions, progress has been hampered by several methodological limitations. For example, prior work has relied on relatively simple and isolated stimuli, which often fail to effectively capture the dynamic and multifaceted nature of emotional experiences in real-life …

Acquisition Of A Lexicon For Family History Information: Bidirectional Encoder Representations From Transformers-Assisted Sublanguage Analysis, Liwei Wang, Huan He, Andrew Wen, Sungrim Moon, Sunyang Fu, Kevin J Peterson, Xuguang Ai, Sijia Liu, Ramakanth Kavuluru, Hongfang Liu

Faculty, Staff and Student Publications

BACKGROUND: A patient's family history (FH) information significantly influences downstream clinical care. Despite this importance, there is no standardized method to capture FH information in electronic health records and a substantial portion of FH information is frequently embedded in clinical notes. This renders FH information difficult to use in downstream data analytics or clinical decision support applications. To address this issue, a natural language processing system capable of extracting and normalizing FH information can be used.

OBJECTIVE: In this study, we aimed to construct an FH lexical resource for information extraction and normalization.

METHODS: We exploited a transformer-based method to …

Instagram Travel Influencers Coping With Covid-19 Travel Disruption, Andrei Kirilenko, Katarzyna Emin, Karen Tavares

ITSA 2022 Gran Canaria - 9th Biennial Conference: Corporate Entrepreneurship and Global Tourism Strategies After Covid 19

A significant portion of today’s marketing is done through social media influencers, that is, through bloggers with established online credibility in a certain area who are recognized and followed by a sizable online audience. In the travel and hospitality industry, the influencer marketing is primarily done through Instagram due to its emphasis on visual images rather than texts. Covid-19 related travel restrictions and shrinking social media advertisement in travel industry have heavily impacted travel influencers, reducing their income and forcing many out of business. We present the outcomes of a study of the top 150 online travel influencers. The analysis …

Using Ai-Generated Suggestions From Chatgpt To Optimize Clinical Decision Support, Siru Liu, Aileen P Wright, Barron L Patterson, Jonathan P Wanderer, Robert W Turer, Scott D Nelson, Allison B Mccoy, Dean F Sittig, Adam Wright

Faculty, Staff and Student Publications

OBJECTIVE: To determine if ChatGPT can generate useful suggestions for improving clinical decision support (CDS) logic and to assess noninferiority compared to human-generated suggestions.

METHODS: We supplied summaries of CDS logic to ChatGPT, an artificial intelligence (AI) tool for question answering that uses a large language model, and asked it to generate suggestions. We asked human clinician reviewers to review the AI-generated suggestions as well as human-generated suggestions for improving the same CDS alerts, and rate the suggestions for their usefulness, acceptance, relevance, understanding, workflow, bias, inversion, and redundancy.

RESULTS: Five clinicians analyzed 36 AI-generated suggestions and 29 human-generated suggestions …

Say That Again: The Role Of Multimodal Redundancy In Communication And Context, Brandon Javier Dormes

Cognitive Science Senior Theses

With several modes of expression, such as facial expressions, body language, and speech working together to convey meaning, social communication is rich in redundancy. While typically relegated to signal preservation, this study investigates the role of cross-modal redundancies in establishing performance context, focusing on unaided, solo performances. Drawing on information theory, I operationalize redundancy as predictability and use an array of machine learning models to featurize speakers' facial expressions, body poses, movement speeds, acoustic features, and spoken language from 24 TEDTalks and 16 episodes of Comedy Central Stand-Up Presents. This analysis demonstrates that it is possible to distinguish between these …

Information Diffusion In Online Social Networks: A Simulation Experiment, Maxwell Jacob Blum

Quantitative Social Science Undergraduate Senior Theses

The advent of online social networks has completely transformed the way we communicate, with news, opinions, and ideas now spreading faster than ever before (Guille et al., 2013; Lee et al., 2022). That online social networks have a profound impact on the spread of information suggests further investigation of the relationship between network structure and information diffusion (Light & Moody, 2020). This honors thesis investigates degree assortativity – a measure of large-scale network structure that has often only been a footnote in relevant literature on infor- mation diffusion in online social networks – and its effect on the speed of …

Utilizing Few-Shot Meta Learning Algorithms For Medical Image Segmentation, Nick Littlefield

Thinking Matters Symposium

Deep learning models can be difficult to train because they require large amounts of data, which we usually do not have or are too expensive to get or annotate. To overcome this problem, we can use few-shot meta-learning, which allows us to train deep learning models with little data. Using a few examples, meta-learning, or learning-to-learn, aims to use the experience learned during training to generalize to unknown tasks. Medical imaging is an industry where it is particularly useful, as there is limited publicly available data due to patient privacy concerns and annotating costs.

This project examines how meta-learning performs …

A Nurse-Led Telehealth Program For Diabetes Foot Care: Feasibility And Usability Study, Hsiao-Hui Ju, Rashmi Momin, Stanley Cron, Jed Jularbal, Jeffery Alford, Constance Johnson

Faculty, Staff and Student Publications

BACKGROUND: Diabetes mellitus can lead to severe and debilitating foot complications, such as infections, ulcerations, and amputations. Despite substantial progress in diabetes care, foot disease remains a major challenge in managing this chronic condition that causes serious health complications worldwide.

OBJECTIVE: The primary aim of this study was to examine the feasibility and usability of a telehealth program focused on preventive diabetes foot care. A secondary aim was to descriptively measure self-reported changes in diabetes knowledge, self-care, and foot care behaviors before and after participating in the program.

METHODS: The study used a single-arm, pre-post design in 2 large family …

Towards An Experimental Bibliography Of Hemispheric Reconstruction Newspapers, Joshua Ortiz Baco, Benjamin Charles Germain Lee, Jim Casey, Sarah H. Salter

Criticism

Digital collections of newspapers have drawn broader attention to the fragmented and scattered print histories of minoritized communities. Attempts to survey these histories through bibliography, however, quickly meet with a fundamental problem: the practice of bibliographic description calls for creating a static record of social affiliations. Given the overwhelming scholarly consensus that categories such as race, ethnicity, and language are socially constructed, this article introduces an experimental bibliographic method for mapping the vast landscape of historical newspapers. This method extends the machine learning affordances of a recent project called Newspaper Navigator to enumerate the newspapers in Chronicling America according to …

Variant Spectrum Of Von Hippel-Lindau Disease And Its Genomic Heterogeneity In Japan, Kenji Tamura, Yuki Kanazashi, Chiaki Kawada, Yuya Sekine, Kazuhiro Maejima, Shingo Ashida, Takashi Karashima, Shohei Kojima, Nickolas F Parrish, Shunichi Kosugi, Chikashi Terao, Shota Sasagawa, Masashi Fujita, Todd A Johnson, Yukihide Momozawa, Keiji Inoue, Taro Shuin, Hidewaki Nakagawa

Faculty, Staff and Student Publications

Von Hippel-Lindau (VHL) disease is an autosomal dominant, inherited syndrome with variants in the VHL gene, causing predisposition to multi-organ neoplasms with vessel abnormality. Germline variants in VHL can be detected in 80-90% of patients clinically diagnosed with VHL disease. Here, we summarize the results of genetic tests for 206 Japanese VHL families, and elucidate the molecular mechanisms of VHL disease, especially in variant-negative unsolved cases. Of the 206 families, genetic diagnosis was positive in 175 families (85%), including 134 families (65%) diagnosed by exon sequencing (15 novel variants) and 41 (20%) diagnosed by multiplex ligation-dependent probe amplification (MLPA) (one …

Stereotypes And Language Models: Understanding How Language Models Encode Stereotypes, Debiasing Language Models, And Examining How Stereotypes Affect Conversations, Brian C. Wang

Computer Science Senior Theses

This thesis describes a variety of approaches in examining how language models encode stereotypes (understanding stereotypes from a model point-of-view), debiasing language models, and using language models to understand how stereotypes affect conversations (understanding stereotypes from a conversational point-of-view). We present a novel approach for textual clues analysis that makes language models more interpretable, combining the understanding of what stereotypes the internal structures of language models have encoded during their initial training (via attention-based analysis) and understanding what textual clues are most relevant to identifying stereotypes for models trained to detect stereotypes (via SHAP-based analysis). We find that different pre-trained …

Mitotrace: A Computational Framework For Analyzing Mitochondrial Variation In Single-Cell Rna Sequencing Data, Mingqiang Wang, Wankun Deng, David C Samuels, Zhongming Zhao, Lukas M Simon

Faculty, Staff and Student Publications

Genetic variation in the mitochondrial genome is linked to important biological functions and various human diseases. Recent progress in single-cell genomics has established single-cell RNA sequencing (scRNAseq) as a popular and powerful technique to profile transcriptomics at the cellular level. While most studies focus on deciphering gene expression, polymorphisms including mitochondrial variants can also be readily inferred from scRNAseq. However, limited attention has been paid to investigate the single-cell landscape of mitochondrial variants, despite the rapid accumulation of scRNAseq data in the community. In addition, a diploid context is assumed for most variant calling tools, which is not appropriate for …

Digital Health Technologies For Peripartum Depression Management Among Low-Socioeconomic Populations: Perspectives From Patients, Providers, And Social Media Channels, Alexandra Zingg, Tavleen Singh, Amy Franklin, Angela Ross, Sudhakar Selvaraj, Jerrie Refuerzo, Sahiti Myneni

Faculty, Staff and Student Publications

BACKGROUND: Peripartum Depression (PPD) affects approximately 10-15% of perinatal women in the U.S., with those of low socioeconomic status (low-SES) more likely to develop symptoms. Multilevel treatment barriers including social stigma and not having appropriate access to mental health resources have played a major role in PPD-related disparities. Emerging advances in digital technologies and analytics provide opportunities to identify and address access barriers, knowledge gaps, and engagement issues. However, most market solutions for PPD prevention and management are produced generically without considering the specialized needs of low-SES populations. In this study, we examine and portray the information and technology needs …

Exploiting Association Rules Mining To Inform The Use Of Non-Manual Features In Sign Language Processing, Robert G. Smith

Other Resources

In recent years, the use of virtual assistants and voice user interfaces has become a latent part of modern living. Unseen to the user are the various artificial intelligence and natural language processing technologies, the vast datasets, and the linguistic insights that underpin such tools. The technologies supporting them have chiefly targeted widely used spoken languages, leaving sign language users at a disadvantage. One important reason why sign languages are unsupported by such tools is a requirement of the underpinning technologies for a comprehensive description of the language. Sign language processing technologies endeavour to bridge this technology inequality.

Recent approaches …