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Discovery of novel ancestry specific genes for androgens and hypogonadism in Million Veteran program Men

Nature Communications 2025年第1期16卷 1-12页

作者： Pagadala, Meghana S. Teerlink, Craig C. Jasuja, Guneet K. Palnati, Madhuri Anglin-Foote, Tori Chang, Nai-Chung N. Deka, Rishi Lee, Kyung M. Agiri, Fatai Y. Amariuta, Tiffany Seibert, Tyler M. Rose, Brent S. Pridgen, Kathryn M. Lynch, Julie A. Carter, Hannah K. Panizzon, Matthew S. Hauger, Richard L. Research Service VA San Diego Healthcare System San Diego CA United States Medical Scientist Training Program University of California San Diego La Jolla CA United States Biomedical Science Program University of California San Diego La Jolla CA United States VA Informatics and Computing Infrastructure (VINCI) VA Salt Lake City Healthcare System Salt Lake City UT United States Department of Internal Medicine Division of Epidemiology University of Utah School of Medicine Salt Lake City UT United States Center for Healthcare Organization and Implementation Research (CHOIR) VA Bedford Healthcare System Bedford MA United States Section of General Internal Medicine Boston University School of Medicine Boston MA United States Department of Health Law Policy and Management Boston University School of Public Health Boston MA United States Department of Radiation Medicine and Applied Sciences University of California San Diego La Jolla CA United States Department of Psychiatry University of California San Diego La Jolla CA United States Department of Medicine University of California San Diego La Jolla CA United States Halicioglu Data Science Institute University of California San Diego La Jolla CA United States Department of Radiology University of California San Diego La Jolla CA United States Department of Bioengineering University of California San Diego La Jolla CA United States Department of Urology University of California San Diego La Jolla CA United States Center for Behavior Genetics of Aging University of California San Diego La Jolla CA United States Center of Excellence for Stress and Mental Health (CESAMH) VA San Diego Healthcare System San Diego CA United States

Given the various roles of testosterone in men’s health, we conducted a multi-ancestral genetic analysis of total testosterone, free testosterone, SHBG, and hypogonadism in men within the Million Veteran program (MVP). Here we identified 157 significant testosterone genetic variants, of which 8 have significant ancestry-specific associations. These variants implicate several genes, including SERPINF2, PRPF8, BAIAP2L1, SHBG, PRMT6, and PPIF, related to liver function. Genetic regulators of testosterone have cell type-specific effects in the testes, liver, and adrenal gland and are associated with disease risk. We conducted a meta-analysis amongst ancestry groups to identify 188 variants significantly associated with testosterone, of which 22 are novel associations. We constructed genetic scores for total testosterone, SHBG levels, and hypogonadism and find that men with higher testosterone genetic scores have lower odds of diabetes, hyperlipidemia, gout, and cardiac disorders. These findings provide insight into androgen regulation and identify novel variants for disease risk stratification. © This is a U.S. Government work and not under copyright protection in the US;foreign copyright protection may apply 2025.

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Xenoestrogen effects on the gut microbiome

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Current Opinion in Endocrine and Metabolic Research 2021年 19卷 41-45页

作者： Rosenfeld, Cheryl S. Christopher S Bond Life Sciences Center University of Missouri Columbia 65211 MO United States Biomedical Sciences University of Missouri Columbia 65211 MO United States MU Institute for Data Science and Informatics (MU IDSI) University of Missouri Columbia 65211 MO United States Thompson Center for Autism and Neurobehavioral Disorders University of Missouri Columbia 65211 MO United States Genetics Area Program University of Missouri Columbia 65211 MO United States

Endocrine disrupting chemicals (EDCs) that act as xenoestrogens are natural and synthetic chemicals widely present in food products, industrial products, and the environment. Such compounds can activate or inhibit normal hormonal pathways by binding to steroid and non-steroid receptors. It is becomingly apparent that resident bacteria in the gut and elsewhere in the body can dramatically influence host responses. As such, increasing number of studies have examined how EDCs affect the gut microbiome in a range of animal species. This review article will examine what is known about how various xenoestrogens, including bisphenol A (BPA), phthalates, and phytoestrogens, affect the gut microbiome in vertebrate species, any known secondary host effects, such as through alteration of gut metabolites, and future directions in the field. © 2021 Elsevier Ltd

关键词： Bisphenol A Genistein Phytoestrogens Rodent models Xenoestrogens

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Implementation of Face Patterns and Smile Recognition for Intelligent Class Attendance Systems

Implementation of Face Patterns and Smile Recognition for In...

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International Conference of Computer and informatics Engineering (IC2IE)

作者： Miftakhurrokhmat Teddy Suparyanto Gregorius Natanael Elwirehardja Shofiyati Nur Karimah Bens Pardamean Bioinformatics and Data Science Research Center Bina Nusantara University Jakarta Indonesia Computer Science Department School of Computer Science Bina Nusantara University Jakarta Indonesia Department of Informatics Faculty of Computer Science Universitas Amikom Yogyakarta Yogyakarta Indonesia Computer Science Department BINUS Graduate Program - Master of Computer Science Bina Nusantara University Jakarta Indonesia

Students “attendance in class is one important success parameter in face-to-face learning processes. Conventional attendance systems, such as paper-based attendance sheets or identity card systems, require a long time in the manual recapitulation process. Without additional verifications, even computer vision-based methods are prone to fraudulent practices by the students instead of gaining their excitement and attention in a class. To stimulate students” attention in a class, this work designs an intelligent class attendance system, in which facial pattern and smile recognition are implemented by using the latter as an additional task-based verification to reduce the risks of fake attendance. For the face recognition module, this pilot study used FaceNet as a feature extractor combined with SVM for classification, whereas the Haar cascade algorithm is used for recognizing smiles. This face recognition pipeline was implemented as a service installed on minicomputers or Internet of Things (IoT) devices in each classroom and connected to an IP camera. Every recorded attendance will be sent as a notification to a mobile application for students that requires their active participation to confirm it with a smiling self-photo. The proposed pipeline obtained 92.86% accuracy on the test data, and 66.67% accuracy when evaluated in a real-life simulation setting through the implemented system. The lower accuracy in the simulation indicated that further improvements are indispensable, especially since the model obtained 28.57% False Negative Rate. Future studies will need to acquire more data and experiment with more efficient methods of attendance verification.

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Employing best input SVR robust lost function with nature-inspired metaheuristics in wind speed energy forecasting

IAENG International Journal of Computer Science

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IAENG International Journal of Computer science 2020年第3期47卷 572-584页

作者： Caraka, Rezzy Eko Chen, Rung Ching Bakar, Sakhinah Abu Tahmid, Muhammad Toharudin, Toni Pardamean, Bens Huang, Su-Wen College of Informatics Chaoyang University of Technology Taichung City41349 Taiwan School of Mathematical Sciences The National University of Malaysia Bandar Baru Bangi Selangor43600 Malaysia Bioinformatics and Data Science Research Center Bina Nusantara University 11480 Indonesia Manado North Sulawesi91594 Indonesia Department of Statistics Padjadjaran University Jatinagor west java45363 Indonesia Bioinformatics and Data Science Research Center Bina Nusantara University and Computer Science Dept. BINUS Graduate Program-Master of Computer Science Program Bina Nusantara University Jakarta11480 Indonesia Taichung Veterans General Hospital Taiwan

Wind power has been experiencing a quick improvement. Without a doubt, wind is a variable asset that is hard to forecast. For instance, traditionally time series, extra holds are distributed to deal with this uncertainty. This paper presents a comparison of the performance of various Support Vector Regression (SVR) applied to short-term wind power forecasting. The analogy with BORUTA and multivariate adaptive regression splines (MARS) as judge best input and employ genetic algorithm and particle swarm optimization to find best parameter in Support Vector Regression with robust lost function. We measure the accuracy of this models by Symmetric means absolute percentage error (sMAPE) and we get the best model BORUTA-SVR-PSO with sMAPE 2.07155%. Moreover, we measure the energy conversion using Feedback Linearization Control (FLC). © International Association of Engineers.

关键词： Genetic algorithms

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A Position Control System for a Single-port Laparoscopic Manipulating Robot

A Position Control System for a Single-port Laparoscopic Man...

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2022 International Electrical Engineering Congress, iEECON 2022

作者： Sonsilphong, Amornthep Sonsilphong, Suphachoke Soemphol, Chaiyong Hormdee, Daranee Khampitak, Kovit Rajamangala University of Technology Isan Department of Electrical Engineering Khon Kean Thailand Khon Kaen University Data Science Health Informatics Program Faculty of Medicine Khon Kaen Thailand Mahasarakham University Faculty of Engineering Department of Electrical Engineering Mahasarakham Thailand Khon Kaen University Embedded System RD Group Computer Engineering Faculty of Engineering Khon Kaen Thailand Khon Kean University Faculty of Medicine Department of Obstetrics and Gynecology Khon Kean Thailand

ISBN: (纸本)9781665402064

The research herein proposes a position control system, designed for a single-port surgical robot, based on the lockup table method. The programmable logic controller (PLC) was implemented to move the single- port surgical robot and handle laparoscope and surgical instruments with feedback control. The output responses of the desired angle were investigated under several conditions. The rotating angle allows movement of the laparoscope in the range of -10o to +10o. The error of the desired position of the designed system was less than approximately ± 0.1o. Moreover, the output data from several experiments may be employed to improve the open-loop control systems. This system is also capable of providing computer vision task implementation, enabling semi- automatic or automatic surgery in the future. © 2022 IEEE.

关键词： Laparoscopy

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A knowledge graph-based approach for exploring the U.S. opioid epidemic

arXiv

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arXiv 2019年

作者： Kamdar, Maulik R. Hamamsy, Tymor Shelton, Shea Vala, Ayin Eftimov, Tome Zou, James Tamang, Suzanne Biomedical Informatics Training Program Stanford University United States Center for Population Health Sciences Stanford University United States Foundation for Precision Medicine San Francisco United States Department of Biomedical Data Science Stanford University United States

The United States is in the midst of an opioid epidemic with recent estimates indicating that more than 130 people die every day due to drug overdose. The over-prescription and addiction to opioid painkillers, heroin, and synthetic opioids, has led to a public health crisis and created a huge social and economic burden. Statistical learning methods that use data from multiple clinical centers across the US to detect opioid over-prescribing trends and predict possible opioid misuse are required. However, the semantic heterogeneity in the representation of clinical data across different centers makes the development and evaluation of such methods difficult and non-trivial. We create the Opioid Drug Knowledge Graph (ODKG) - a network of opioid-related drugs, active ingredients, formulations, combinations, and brand names. We use the ODKG to normalize drug strings in a clinical data warehouse consisting of patient data from over 400 healthcare facilities in 42 different states. We showcase the use of ODKG to generate summary statistics of opioid prescription trends across US regions. These methods and resources can aid the development of advanced and scalable models to monitor the opioid epidemic and to detect illicit opioid misuse behavior. Our work is relevant to policymakers and pain researchers who wish to systematically assess factors that contribute to opioid over-prescribing and iatrogenic opioid addiction in the US. Copyright © 2019, The Authors. All rights reserved.

关键词： Epidemiology

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Graph Representation Learning in Biomedicine

arXiv

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arXiv 2021年

作者： Li, Michelle M. Huang, Kexin Zitnik, Marinka Bioinformatics and Integrative Genomics Program Harvard Medical School BostonMA02115 United States Health Data Science Program Harvard T.H. Chan School of Public Health BostonMA02115 United States Department of Biomedical Informatics Harvard Medical School BostonMA02115 United States Broad Institute of MIT and Harvard CambridgeMA02142 United States Harvard Data Science Initiative CambridgeMA02138 United States

Biomedical networks (or graphs) are universal descriptors for systems of interacting elements, from molecular interactions and disease co-morbidity to healthcare systems and scientific knowledge. Advances in artificial intelligence, specifically deep learning, have enabled us to model, analyze, and learn with such networked data. In this review, we put forward an observation that long-standing principles of systems biology and medicine-while often unspoken in machine learning research-provide the conceptual grounding for representation learning on graphs, explain its current successes and limitations, and even inform future advancements. We synthesize a spectrum of algorithmic approaches that, at their core, leverage graph topology to embed networks into compact vector spaces. We also capture the breadth of ways in which representation learning has dramatically improved the state-of-the-art in biomedical machine learning. Exemplary domains covered include identifying variants underlying complex traits, disentangling behaviors of single cells and their effects on health, assisting in diagnosis and treatment of patients, and developing safe and effective medicines. © 2021, CC BY.

关键词： Vector spaces

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Ramadhan short-term electric load: A hybrid model of cycle spinning wavelet and group method data handling (CSW-GMDH)

IAENG International Journal of Computer Science

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IAENG International Journal of Computer science 2019年第4期46卷 670页

作者： Caraka, Rezzy Eko Chen, Rung Ching Toharudin, Toni Pardamean, Bens Bakar, Sakhinah Abu Yasin, Hasbi College of Informatics Chaoyang University of Technology Taichung City41349 Taiwan Department of Statistics Padjadjaran University Bandung Indonesia College of Informatics Chaoyang University of Technology Taichung City41349 Indonesia Bioinformatics Data Science Research Center Bina Nusantara University Indonesia BINUS Graduate Program-Master of Computer Science Bina Nusantara University. Indonesia School of Mathematical Sciences FST The National University of Malaysia Malaysia Department of Statistics Diponegoro University Semarang Indonesia

In general, performing a nonlinearity time series analysis in the modeling of data can reach a robust and increase the quality of the results. Wavelet methods have successfully been applied in a great variety of applications for modeling also forecasting. Wavelet Transform divided into two categories. There is continuous wavelet (CWT) and a discrete wavelet transform (DWT). Cycle spinning unlike the discrete wavelet transform (DWT), is highly redundant, non-orthogonal, also defined naturally for all sample sizes. There is a Group Method of data Handling (GMDH) algorithm, which is a multivariate analysis method can be used in modeling and identifying uncertainty on linear also nonlinearity systems. In this paper, we aim to explain the combination of A-Trous wavelet transforms applied on cycle spinning and group method of data handling (GMDH) in data of short-term electric load holy month of Ramadhan from 2014 to 2015. © 2019, International Association of Engineers.

关键词： Discrete wavelet transforms

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Latent Regression and Ordination Risk of Infectious Disease and Climate

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Procedia Computer science 2021年 179卷 25-32页

作者： Rezzy Eko Caraka Rung Ching Chen Youngjo Lee Prana Ugiana Gio Arif Budiarto Bens Pardamean College of Informatics Chaoyang University of Technology 168 Jifong East Road Wufong Dist. Taichung City 41349 Taiwan (R.O.C.). Department of Statistics College of Natural Science Seoul National University Gwanak-gu Seoul 08826 Korea Bioinformatics and Data Science Research Center Bina Nusantara University Jakarta Indonesia Department of Mathematics Universitas Sumatera Utara Medan 20222 Indonesia Computer Science Department School of Computer Science Bina Nusantara University Jakarta Indonesia 11480 Computer Science Department BINUS Graduate Program - Master of Computer Science Program Bina Nusantara University Indonesia.

Global warming arising from climate change can increase the spread of deadly diseases. Effort is needed to develop a set of policies for the government to stem or reduce health risks from global warming. The purpose of this paper is to examine more detail and comprehensively about the relationship among climate and event disease count in Taiwan using the partial least square latent regression model. The results obtained that of the 17 types of diseases in Taiwan, that has the most significant loading factor is Amoebiasis, Malaria and Chikungunya. At the same time, climate variables that have the biggest most significant factor are Number day with max temp more than 30, Number day Temp more than 25, and Rainfall PH. Cronbach’s Alpha infectious disease 0.9696 and climate 0.2813. At the same time, the value of Dillon Goldstein’s rho infectious disease 0.974 and climate 0.6404, respectively.

关键词： Disease Counts Climate Latent PLS Regression

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Generative adversarial networks applied to gene expression analysis: An interdisciplinary perspective

Computational and Systems Oncology

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Computational and Systems Oncology 2023年第3期3卷

作者： Ai, Xusheng Smith, Melissa C Feltus, Frank Alex Electrical and Computer Engineering Department Clemson University Clemson SC United States Department of Genetics and Biochemistry Biomedical Data Science & Informatics Program Clemson Center for Human Genetics Clemson University Clemson SC United States

The remarkable flexibility and adaptability of generative adversarial networks (GANs) have led to the proliferation of its models in bioinformatics research. Proteomic and transcriptomic profiles have been shown to be promising methods for discovering and identifying disease biomarkers. However, those analyses were performed by trained human examiners making the process tedious, time consuming, and hard to standardize. With the development of GANs, it is now possible to reduce computational costs and human time for bioinformatics analysis to produce effective biomarkers. Moreover, GANs help address the lack of phenotypic state transitional gene expression data as well as avoid protected human data constraints by generating RNA sequencing (RNA-seq) data from random vectors. The purpose of this review is to summarize the use of GAN approaches and techniques to augment RNA-seq expression data and identify clinically useful biomarkers. We compare different studies that use different types of GAN models to examine the biomarkers. Also, we identify research gaps and challenges that apply GANs to bio-informatics. Finally, we propose potential directions for future research. © 2023 The Authors. Computational and Systems Oncology published by Wiley Periodicals LLC.

关键词： biomarkers data augmentation generative adversarial network RNA sequencing

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