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Articles 271 - 300 of 602
Full-Text Articles in Physical Sciences and Mathematics
A Gcn-Based Approach To Uncover Misaligned Synonymous Terms In The Umls Metathesaurus
A Gcn-Based Approach To Uncover Misaligned Synonymous Terms In The Umls Metathesaurus
Faculty, Staff and Student Publications
The Unified Medical Language System (UMLS), a large repository of biomedical vocabularies, has been used for supporting various biomedical applications. Ensuring the quality of the UMLS is critical to maintain both the accuracy of its content and the reliability of downstream applications. In this work, we present a Graph Convolutional Network (GCN)-based approach to identify misaligned synonymous terms organized under different UMLS concepts. We used synonymous terms grouped under the same concept as positive samples and top lexically similar terms as negative samples to train the GCN model. We applied the model to a test set and suggested those negative …
Digital Solutions Observed In Clinical Trials: A Formative Feasibility Scoping Review, Hongfang Liu
Digital Solutions Observed In Clinical Trials: A Formative Feasibility Scoping Review, Hongfang Liu
Faculty, Staff and Student Publications
Growing digital access accelerates digital transformation of clinical trials where digital solutions (DSs) are increasingly and widely leveraged for improving trial efficiency, effectiveness, and accessibility. Many factors impact DS success including technology barriers, privacy concerns, or user engagement activities. It is unclear how those factors are considered or reported in the literature. Here, we perform a formative feasibility scoping review to identify gaps impacting DS quality and reproducibility in trials. Articles containing digital terms published in English from 2009 to 2022 were collected (n=4,167). 130 articles published between 2016 and 2022 were randomly selected for full-text review. Eligible articles (n=100) …
Contextual Variation Of Clinical Notes Induced By Ehr Migration
Contextual Variation Of Clinical Notes Induced By Ehr Migration
Faculty, Staff and Student Publications
The structure and semantics of clinical notes vary considerably across different Electronic Health Record (EHR) systems, sites, and institutions. Such heterogeneity hampers the portability of natural language processing (NLP) models in extracting information from the text for clinical research or practice. In this study, we evaluate the contextual variation of clinical notes by measuring the semantic and syntactic similarity of the notes of two sets of physicians comprising four medical specialties across EHR migrations at two Mayo Clinic sites. We find significant semantic and syntactic variation imposed by the context of the EHR system and between medical specialties whereas only …
Characterizing Performance Gaps Of A Code-Based Dementia Algorithm In A Population-Based Cohort Of Cognitive Aging, Ronald C Petersen, Jennifer St Sauver, Sunghwan Sohn
Characterizing Performance Gaps Of A Code-Based Dementia Algorithm In A Population-Based Cohort Of Cognitive Aging, Ronald C Petersen, Jennifer St Sauver, Sunghwan Sohn
Faculty, Staff and Student Publications
BACKGROUND: Multiple algorithms with variable performance have been developed to identify dementia using combinations of billing codes and medication data that are widely available from electronic health records (EHR). If the characteristics of misclassified patients are clearly identified, modifying existing algorithms to improve performance may be possible.
OBJECTIVE: To examine the performance of a code-based algorithm to identify dementia cases in the population-based Mayo Clinic Study of Aging (MCSA) where dementia diagnosis (i.e., reference standard) is actively assessed through routine follow-up and describe the characteristics of persons incorrectly categorized.
METHODS: There were 5,316 participants (age at baseline (mean (SD)): 73.3 …
Segmentation Of Acute Stroke Infarct Core Using Image-Level Labels On Ct-Angiography, Sergio Salazar-Marioni, Sunil A Sheth
Segmentation Of Acute Stroke Infarct Core Using Image-Level Labels On Ct-Angiography, Sergio Salazar-Marioni, Sunil A Sheth
Faculty, Staff and Student Publications
Acute ischemic stroke is a leading cause of death and disability in the world. Treatment decisions, especially around emergent revascularization procedures, rely heavily on size and location of the infarct core. Currently, accurate assessment of this measure is challenging. While MRI-DWI is considered the gold standard, its availability is limited for most patients suffering from stroke. Another well-studied imaging modality is CT-Perfusion (CTP) which is much more common than MRI-DWI in acute stroke care, but not as precise as MRI-DWI, and it is still unavailable in many stroke hospitals. A method to determine infarct core using CT-Angiography (CTA), a much …
Keystroke-Dynamics For Parkinson's Disease Signs Detection In An At-Home Uncontrolled Population: A New Benchmark And Method
Faculty, Staff and Student Publications
Parkinson's disease (PD) is the second most prevalent neurodegenerative disease disorder in the world. A prompt diagnosis would enable clinical trials for disease-modifying neuroprotective therapies. Recent research efforts have unveiled imaging and blood markers that have the potential to be used to identify PD patients promptly, however, the idiopathic nature of PD makes these tests very hard to scale to the general population. To this end, we need an easily deployable tool that would enable screening for PD signs in the general population. In this work, we propose a new set of features based on keystroke dynamics, i.e., the time …
Annotation And Information Extraction Of Consumer-Friendly Health Articles For Enhancing Laboratory Test Reporting, Yang Gong, Zhan Zhang, Xiao Luo, Mia Liza A Lustria
Annotation And Information Extraction Of Consumer-Friendly Health Articles For Enhancing Laboratory Test Reporting, Yang Gong, Zhan Zhang, Xiao Luo, Mia Liza A Lustria
Faculty, Staff and Student Publications
Viewing laboratory test results is patients' most frequent activity when accessing patient portals, but lab results can be very confusing for patients. Previous research has explored various ways to present lab results, but few have attempted to provide tailored information support based on individual patient's medical context. In this study, we collected and annotated interpretations of textual lab result in 251 health articles about laboratory tests from AHealthyMe.com. Then we evaluated transformer-based language models including BioBERT, ClinicalBERT, RoBERTa, and PubMedBERT for recognizing key terms and their types. Using BioPortal's term search API, we mapped the annotated terms to concepts in …
The Health-Promoting Effects And The Mechanism Of Intermittent Fasting, Xiang Li, Zixian Xie, Shang Wang, Yu Cai
The Health-Promoting Effects And The Mechanism Of Intermittent Fasting, Xiang Li, Zixian Xie, Shang Wang, Yu Cai
Faculty, Staff and Student Publications
Intermittent fasting (IF) is an eating pattern in which individuals go extended periods with little or no energy intake after consuming regular food in intervening periods. IF has several health-promoting effects. It can effectively reduce weight, fasting insulin levels, and blood glucose levels. It can also increase the antitumor activity of medicines and cause improvement in the case of neurological diseases, such as memory deficit, to achieve enhanced metabolic function and prolonged longevity. Additionally, IF activates several biological pathways to induce autophagy, encourages cell renewal, prevents cancer cells from multiplying and spreading, and delays senescence. However, IF has specific adverse …
The Current Status And Future Prospects For Conversion Therapy In The Treatment Of Hepatocellular Carcinoma, Rong Ding
Faculty, Staff and Student Publications
Hepatocellular carcinoma (HCC) is the third most common cause of cancer-related deaths worldwide. In China, most HCC patients are diagnosed with advanced disease and in these cases surgery is challenging. Conversion therapy can be used to change unresectable HCC into resectable disease and is a potential breakthrough treatment strategy. The resection rate for unresectable advanced HCC has recently improved as a growing number of patients have benefited from conversion therapy. While conversion therapy is at an early stage of development, progress in patient selection, optimum treatment methods, and the timing of surgery have the potential to deliver significant benefits. In …
Emulate Randomized Clinical Trials Using Heterogeneous Treatment Effect Estimation For Personalized Treatments: Methodology Review And Benchmark, Yejin Kim
Faculty, Staff and Student Publications
Big data and (deep) machine learning have been ambitious tools in digital medicine, but these tools focus mainly on association. Intervention in medicine is about the causal effects. The average treatment effect has long been studied as a measure of causal effect, assuming that all populations have the same effect size. However, no "one-size-fits-all" treatment seems to work in some complex diseases. Treatment effects may vary by patient. Estimating heterogeneous treatment effects (HTE) may have a high impact on developing personalized treatment. Lots of advanced machine learning models for estimating HTE have emerged in recent years, but there has been …
Text Classification Of Cancer Clinical Trial Eligibility Criteria
Text Classification Of Cancer Clinical Trial Eligibility Criteria
Faculty, Staff and Student Publications
Automatic identification of clinical trials for which a patient is eligible is complicated by the fact that trial eligibility are stated in natural language. A potential solution to this problem is to employ text classification methods for common types of eligibility criteria. In this study, we focus on seven common exclusion criteria in cancer trials: prior malignancy, human immunodeficiency virus, hepatitis B, hepatitis C, psychiatric illness, drug/substance abuse, and autoimmune illness. Our dataset consists of 764 phase III cancer trials with these exclusions annotated at the trial level. We experiment with common transformer models as well as a new pre-trained …
Use Gpt-J Prompt Generation With Roberta For Ner Models On Diagnosis Extraction Of Periodontal Diagnosis From Electronic Dental Records, Duong Tran, Oluwabunmi Tokede, Muhammad F Walji
Use Gpt-J Prompt Generation With Roberta For Ner Models On Diagnosis Extraction Of Periodontal Diagnosis From Electronic Dental Records, Duong Tran, Oluwabunmi Tokede, Muhammad F Walji
Faculty, Staff and Student Publications
This study explored the usability of prompt generation on named entity recognition (NER) tasks and the performance in different settings of the prompt. The prompt generation by GPT-J models was utilized to directly test the gold standard as well as to generate the seed and further fed to the RoBERTa model with the spaCy package. In the direct test, a lower ratio of negative examples with higher numbers of examples in prompt achieved the best results with a F1 score of 0.72. The performance revealed consistency, 0.92-0.97 in the F1 score, in all settings after training with the RoBERTa model. …
Transiently Impaired Endothelial Function During Thyroid Hormone Withdrawal In Differentiated Thyroid Cancer Patients, Chen-Tian Shen, Hong-Jun Song, Wen-Kun Bai, Zhong-Ling Qiu, Quan-Yong Luo
Transiently Impaired Endothelial Function During Thyroid Hormone Withdrawal In Differentiated Thyroid Cancer Patients, Chen-Tian Shen, Hong-Jun Song, Wen-Kun Bai, Zhong-Ling Qiu, Quan-Yong Luo
Faculty, Staff and Student Publications
PURPOSE: Endothelial dysfunction, which was associated with chronic hypothyroidism, was an early event in atherosclerosis. Whether short-term hypothyroidism following thyroxine withdrawal during radioiodine (RAI) therapy was associated with endothelial dysfunction in patients with differentiated thyroid cancer (DTC) was unclear. Aim of the study was to assess whether short-term hypothyroidism could impair endothelial function and the accompanied metabolic changes in the whole process of RAI therapy.
METHODS: We recruited fifty-one patients who underwent total thyroidectomy surgery and would accept RAI therapy for DTC. We analyzed thyroid function, endothelial function and serum lipids levels of the patients at three time points: the …
Sensitive Data Detection With High-Throughput Machine Learning Models In Electrical Health Records
Sensitive Data Detection With High-Throughput Machine Learning Models In Electrical Health Records
Faculty, Staff and Student Publications
In the era of big data, there is an increasing need for healthcare providers, communities, and researchers to share data and collaborate to improve health outcomes, generate valuable insights, and advance research. The Health Insurance Portability and Accountability Act of 1996 (HIPAA) is a federal law designed to protect sensitive health information by defining regulations for protected health information (PHI). However, it does not provide efficient tools for detecting or removing PHI before data sharing. One of the challenges in this area of research is the heterogeneous nature of PHI fields in data across different parties. This variability makes rule-based …
Towards Fair Patient-Trial Matching Via Patient-Criterion Level Fairness Constraint, Kai Zhang, Xiaoqian Jiang, Xia Hu, Na Zou
Towards Fair Patient-Trial Matching Via Patient-Criterion Level Fairness Constraint, Kai Zhang, Xiaoqian Jiang, Xia Hu, Na Zou
Faculty, Staff and Student Publications
Clinical trials are indispensable in developing new treatments, but they face obstacles in patient recruitment and retention, hindering the enrollment of necessary participants. To tackle these challenges, deep learning frameworks have been created to match patients to trials. These frameworks calculate the similarity between patients and clinical trial eligibility criteria, considering the discrepancy between inclusion and exclusion criteria. Recent studies have shown that these frameworks outperform earlier approaches. However, deep learning models may raise fairness issues in patient-trial matching when certain sensitive groups of individuals are underrepresented in clinical trials, leading to incomplete or inaccurate data and potential harm. To …
Large Language Models For Healthcare Data Augmentation: An Example On Patient-Trial Matching
Large Language Models For Healthcare Data Augmentation: An Example On Patient-Trial Matching
Faculty, Staff and Student Publications
The process of matching patients with suitable clinical trials is essential for advancing medical research and providing optimal care. However, current approaches face challenges such as data standardization, ethical considerations, and a lack of interoperability between Electronic Health Records (EHRs) and clinical trial criteria. In this paper, we explore the potential of large language models (LLMs) to address these challenges by leveraging their advanced natural language generation capabilities to improve compatibility between EHRs and clinical trial descriptions. We propose an innovative privacy-aware data augmentation approach for LLM-based patient-trial matching (LLM-PTM), which balances the benefits of LLMs while ensuring the security …
Split Learning For Distributed Collaborative Training Of Deep Learning Models In Health Informatics, Zhijun Yin, Xiaoqian Jiang, Bradley A Malin
Split Learning For Distributed Collaborative Training Of Deep Learning Models In Health Informatics, Zhijun Yin, Xiaoqian Jiang, Bradley A Malin
Faculty, Staff and Student Publications
Deep learning continues to rapidly evolve and is now demonstrating remarkable potential for numerous medical prediction tasks. However, realizing deep learning models that generalize across healthcare organizations is challenging. This is due, in part, to the inherent siloed nature of these organizations and patient privacy requirements. To address this problem, we illustrate how split learning can enable collaborative training of deep learning models across disparate and privately maintained health datasets, while keeping the original records and model parameters private. We introduce a new privacy-preserving distributed learning framework that offers a higher level of privacy compared to conventional federated learning. We …
Local Contrastive Learning For Medical Image Recognition, Xia Hu
Local Contrastive Learning For Medical Image Recognition, Xia Hu
Faculty, Staff and Student Publications
The proliferation of Deep Learning (DL)-based methods for radiographic image analysis has created a great demand for expert-labeled radiology data. Recent self-supervised frameworks have alleviated the need for expert labeling by obtaining supervision from associated radiology reports. These frameworks, however, struggle to distinguish the subtle differences between different pathologies in medical images. Additionally, many of them do not provide interpretation between image regions and text, making it difficult for radiologists to assess model predictions. In this work, we propose Local Region Contrastive Learning (LRCLR), a flexible fine-tuning framework that adds layers for significant image region selection as well as cross-modality …
Readiness For Transfer: A Mixed-Methods Study On Icu Transfers Of Care, Soo-Hoon Lee, Clarice Wee, Phillip Phan, Yanika Kowitlawakul, Chee-Kiat Tan, Amartya Mukhopadhyay
Readiness For Transfer: A Mixed-Methods Study On Icu Transfers Of Care, Soo-Hoon Lee, Clarice Wee, Phillip Phan, Yanika Kowitlawakul, Chee-Kiat Tan, Amartya Mukhopadhyay
Management Faculty Publications
Objective Past studies on intensive care unit (ICU) patient transfers compare the efficacy of using standardised checklists against unstructured communications. Less studied are the experiences of clinicians in enacting bidirectional (send/receive) transfers. This study reports on the differences in protocols and data elements between receiving and sending transfers in the ICU, and the elements constituting readiness for transfer.
Methods Mixed-methods study of a 574-bed general hospital in Singapore with a 74-bed ICU for surgical and medical patients. Six focus group discussions (FGDs) with 34 clinicians comprising 15 residents and 19 nurses, followed by a structured questionnaire survey of 140 clinicians …
The Shortfalls Of Vulnerability Indexes For Public Health Decision-Making In The Face Of Emergent Crises: The Case Of Covid-19 Vaccine Uptake In Virginia, Lydia Cleveland Sa, Erika Frydenlund
The Shortfalls Of Vulnerability Indexes For Public Health Decision-Making In The Face Of Emergent Crises: The Case Of Covid-19 Vaccine Uptake In Virginia, Lydia Cleveland Sa, Erika Frydenlund
VMASC Publications
Equitable and effective vaccine uptake is a key issue in addressing COVID-19. To achieve this, we must comprehensively characterize the context-specific socio-behavioral and structural determinants of vaccine uptake. However, to quickly focus public health interventions, state agencies and planners often rely on already existing indexes of "vulnerability." Many such "vulnerability indexes" exist and become benchmarks for targeting interventions in wide ranging scenarios, but they vary considerably in the factors and themes that they cover. Some are even uncritical of the use of the word "vulnerable," which should take on different meanings in different contexts. The objective of this study is …
Experiences Of Parents With Opioid Use Disorder During Their Attempts To Seek Treatment: A Qualitative Analysis
Faculty, Staff and Student Publications
In the U.S., 12.3% of children live with at least one parent who has a substance use disorder. Prior research has shown that men are more likely to seek treatment than women and that the barriers are different; however, there is limited research focusing specifically on opioid use disorder (OUD). We sought to understand the barriers and motivators for parents with OUD. We conducted a qualitative study by interviewing parents with OUD who were part of an outpatient treatment program. Interviews followed a semi-structured format with questions on access to and motivation for treatment. The interviews were recorded and transcribed …
High-Frequency Ultrasound In Patients With Seronegative Rheumatoid Arthritis, Jianguo Wen
High-Frequency Ultrasound In Patients With Seronegative Rheumatoid Arthritis, Jianguo Wen
Faculty, Staff and Student Publications
This study aimed to investigate the value of high-frequency ultrasound (HFUS) in differentiation of the seronegative rheumatoid arthritis (SNRA) and osteoarthritis (OA) and in the diagnosis of SNRA. 83 patients diagnosed with SNRA (SNRA group) and 40 diagnosed with OA (OA group) who received HFUS were retrospectively analyzed. The grayscale (GS) scores, power Doppler (PD) scores, and bone erosion (BE)scores were recorded, and added up to calculate the total scores of US variables. The correlations of the total scores of US variables with the 28-joint disease activity score (DAS28), erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were analyzed. The …
Open-Source Benchmarking Of Ibd Segment Detection Methods For Biobank-Scale Cohorts, Degui Zhi
Open-Source Benchmarking Of Ibd Segment Detection Methods For Biobank-Scale Cohorts, Degui Zhi
Faculty, Staff and Student Publications
In the recent biobank era of genetics, the problem of identical-by-descent (IBD) segment detection received renewed interest, as IBD segments in large cohorts offer unprecedented opportunities in the study of population and genealogical history, as well as genetic association of long haplotypes. While a new generation of efficient methods for IBD segment detection becomes available, direct comparison of these methods is difficult: existing benchmarks were often evaluated in different datasets, with some not openly accessible; methods benchmarked were run under suboptimal parameters; and benchmark performance metrics were not defined consistently. Here, we developed a comprehensive and completely open-source evaluation of …
Drug Abuse Ontology To Harness Web-Based Data For Substance Use Epidemiology Research, Usha Lokala, Francois Lamy, Raminta Daniulaityte, Manas Gaur, Amelie Gyrard, Krishnaprasad Thirunarayan, Ugur Kursuncu, Amit Sheth
Drug Abuse Ontology To Harness Web-Based Data For Substance Use Epidemiology Research, Usha Lokala, Francois Lamy, Raminta Daniulaityte, Manas Gaur, Amelie Gyrard, Krishnaprasad Thirunarayan, Ugur Kursuncu, Amit Sheth
Computer Science and Engineering Faculty Publications
Background: Web-based resources and social media platforms play an increasingly important role in health-related knowledge and experience sharing. There is a growing interest in the use of these novel data sources for epidemiological surveillance of substance use behaviors and trends. Objective: The key aims were to describe the development and application of the drug abuse ontology (DAO) as a framework for analyzing web-based and social media data to inform public health and substance use research in the following areas: determining user knowledge, attitudes, and behaviors related to nonmedical use of buprenorphine and illicitly manufactured opioids through the analysis of web …
Intraoperative Localization And Preservation Of Reading In Ventral Occipitotemporal Cortex, Samden D Lhatoo, Nitin Tandon
Intraoperative Localization And Preservation Of Reading In Ventral Occipitotemporal Cortex, Samden D Lhatoo, Nitin Tandon
Faculty, Staff and Student Publications
OBJECTIVE: Resective surgery in language-dominant ventral occipitotemporal cortex (vOTC) carries the risk of causing impairment to reading. Because it is not on the lateral surface, it is not easily accessible for intraoperative mapping, and extensive stimulation mapping can be time-consuming. Here the authors assess the feasibility of using task-based electrocorticography (ECoG) recordings intraoperatively to help guide stimulation mapping of reading in vOTC.
METHODS: In 11 patients undergoing extraoperative, intracranial seizure mapping, the authors recorded induced broadband gamma activation (70-150 Hz) during a visual category localizer. In 2 additional patients, whose pathologies necessitated resections in language-dominant vOTC, task-based functional mapping was …
Privacy-Aware Estimation Of Relatedness In Admixed Populations, Han Chen, Arif Harmanci
Privacy-Aware Estimation Of Relatedness In Admixed Populations, Han Chen, Arif Harmanci
Faculty, Staff and Student Publications
BACKGROUND: Estimation of genetic relatedness, or kinship, is used occasionally for recreational purposes and in forensic applications. While numerous methods were developed to estimate kinship, they suffer from high computational requirements and often make an untenable assumption of homogeneous population ancestry of the samples. Moreover, genetic privacy is generally overlooked in the usage of kinship estimation methods. There can be ethical concerns about finding unknown familial relationships in third-party databases. Similar ethical concerns may arise while estimating and reporting sensitive population-level statistics such as inbreeding coefficients for the concerns around marginalization and stigmatization.
RESULTS: Here, we present SIGFRIED, which makes …
A Comprehensive Artificial Intelligence Framework For Dental Diagnosis And Charting, Shayan Shams
A Comprehensive Artificial Intelligence Framework For Dental Diagnosis And Charting, Shayan Shams
Faculty, Staff and Student Publications
BACKGROUND: The aim of this study was to develop artificial intelligence (AI) guided framework to recognize tooth numbers in panoramic and intraoral radiographs (periapical and bitewing) without prior domain knowledge and arrange the intraoral radiographs into a full mouth series (FMS) arrangement template. This model can be integrated with different diseases diagnosis models, such as periodontitis or caries, to facilitate clinical examinations and diagnoses.
METHODS: The framework utilized image segmentation models to generate the masks of bone area, tooth, and cementoenamel junction (CEJ) lines from intraoral radiographs. These masks were used to detect and extract teeth bounding boxes utilizing several …
Atomistic Measurement And Modeling Of Intrinsic Fracture Toughness Of Two-Dimensional Materials, Jianguo Wen, Horacio D Espinosa
Atomistic Measurement And Modeling Of Intrinsic Fracture Toughness Of Two-Dimensional Materials, Jianguo Wen, Horacio D Espinosa
Faculty, Staff and Student Publications
Quantifying the intrinsic mechanical properties of two-dimensional (2D) materials is essential to predict the long-term reliability of materials and systems in emerging applications ranging from energy to health to next-generation sensors and electronics. Currently, measurements of fracture toughness and identification of associated atomistic mechanisms remain challenging. Herein, we report an integrated experimental-computational framework in which in-situ high-resolution transmission electron microscopy (HRTEM) measurements of the intrinsic fracture energy of monolayer MoS
The Impact Of Covid-19 On Opioid-Related Overdose Deaths In Texas, Bhanumathi Gopal, Tiffany Champagne-Langabeer
The Impact Of Covid-19 On Opioid-Related Overdose Deaths In Texas, Bhanumathi Gopal, Tiffany Champagne-Langabeer
Faculty, Staff and Student Publications
Prior to the COVID-19 pandemic, the United States was facing an epidemic of opioid overdose deaths, clouding accurate inferences about the impact of the pandemic at the population level. We sought to determine the existence of increases in the trends of opioid-related overdose (ORO) deaths in the Greater Houston metropolitan area from January 2015 through December 2021, and to describe the social vulnerability present in the geographic location of these deaths. We merged records from the county medical examiner's office with social vulnerability indexes (SVIs) for the region and present geospatial locations of the aggregated ORO deaths. Time series analyses …
Scgwas: Landscape Of Trait-Cell Type Associations By Integrating Single-Cell Transcriptomics-Wide And Genome-Wide Association Studies, Zhongming Zhao
Scgwas: Landscape Of Trait-Cell Type Associations By Integrating Single-Cell Transcriptomics-Wide And Genome-Wide Association Studies, Zhongming Zhao
Faculty, Staff and Student Publications
BACKGROUND: The rapid accumulation of single-cell RNA sequencing (scRNA-seq) data presents unique opportunities to decode the genetically mediated cell-type specificity in complex diseases. Here, we develop a new method, scGWAS, which effectively leverages scRNA-seq data to achieve two goals: (1) to infer the cell types in which the disease-associated genes manifest and (2) to construct cellular modules which imply disease-specific activation of different processes.
RESULTS: scGWAS only utilizes the average gene expression for each cell type followed by virtual search processes to construct the null distributions of module scores, making it scalable to large scRNA-seq datasets. We demonstrated scGWAS in …