Article
Engineering, Electrical & Electronic
Licheng Jiao, Zhongjian Huang, Xu Liu, Yuting Yang, Mengru Ma, Jiaxuan Zhao, Chao You, Biao Hou, Shuyuan Yang, Fang Liu, Wenping Ma, Lingling Li, Puhua Chen, Zhixi Feng, Xu Tang, Yuwei Guo, Xiangrong Zhang, Dou Quan, Shuang Wang, Weibin Li, Jing Bai, Yangyang Li, Ronghua Shang, Jie Feng
Summary: This article summarizes and analyzes the essential properties of brain cognize learning and the recent advance of remote sensing interpretation. It introduces the brain's structural composition and properties, and studies five representative brain-inspired algorithms. The article also summarizes the data types of remote sensing, the development of typical applications, and discusses the future direction of brain-inspired remote sensing interpretation.
IEEE JOURNAL OF SELECTED TOPICS IN APPLIED EARTH OBSERVATIONS AND REMOTE SENSING
(2023)
Article
Multidisciplinary Sciences
William L. Macken, Micol Falabella, Caroline McKittrick, Chiara Pizzamiglio, Rebecca Ellmers, Kelly Eggleton, Cathy E. Woodward, Yogen Patel, Robyn Labrum, Rahul Phadke, Mary M. Reilly, Catherine DeVile, Anna Sarkozy, Emma Footitt, James Davison, Shamima Rahman, Henry Houlden, Enrico Bugiardini, Rosaline Quinlivan, Michael G. Hanna, Jana Vandrovcova, Robert D. S. Pitceathly
Summary: Specialist multidisciplinary analysis of whole genome sequencing improves diagnostic rates and management for complex disorders, facilitating access to the potential benefits of genomic healthcare.
NATURE COMMUNICATIONS
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Robert J. H. Miller, Keiichiro Kuronuma, Ananya Singh, Yuka Otaki, Sean Hayes, Panithaya Chareonthaitawee, Paul Kavanagh, Tejas Parekh, Balaji K. Tamarappoo, Tali Sharir, Andrew J. Einstein, Mathews B. Fish, Terrence D. Ruddy, Philipp A. Kaufmann, Albert J. Sinusas, Edward J. Miller, Timothy M. Bateman, Sharmila Dorbala, Marcelo Di Carli, Sebastien Cadet, Joanna X. Liang, Damini Dey, Daniel S. Berman, Piotr J. Slomka
Summary: Explainable deep learning predictions lead to meaningful improvements in physician interpretation of myocardial perfusion imaging results, although the extent of improvement varies among different physicians, reflecting differences in acceptance of this technology. This technique can be implemented as an aid to physician diagnosis, improving the diagnostic accuracy of myocardial perfusion imaging.
JOURNAL OF NUCLEAR MEDICINE
(2022)
Review
Medicine, General & Internal
Nicoleta Anton, Bogdan Doroftei, Silvia Curteanu, Lisa Catalin, Ovidiu-Dumitru Ilie, Filip Tarcoveanu, Camelia Margareta Bogdanici
Summary: Artificial intelligence (AI) tools have been widely used in medicine, particularly in ophthalmology, for detecting visual function deficits and predicting the progression of eye diseases. Artificial neural networks (ANNs) play a critical role in detecting and customizing the control of ophthalmic diseases.
Article
Microbiology
Sunita Gulati, Andreas Holm Mattsson, Sophie Schussek, Bo Zheng, Rosane B. DeOliveira, Jutamas Shaughnessy, Lisa A. Lewis, Peter A. Rice, Par Comstedt, Sanjay Ram
Summary: A safe and effective vaccine is urgently needed to combat multidrug-resistant Neisseria gonorrhoeae. In this study, a platform called EDEN was used to screen 26 potential vaccine antigens, and their efficacy was tested in a mouse model. The combination of NGO1549 and NGO0265 showed significant reduction in colonization by MDR strains.
Review
Medicine, General & Internal
Pranav Rajpurkar, Matthew P. Lungren
Summary: This article examines the advantages and limitations of current clinical radiologic AI systems, new clinical workflows, and the potential effect of generative AI and large multimodal foundation models.
NEW ENGLAND JOURNAL OF MEDICINE
(2023)
Review
Computer Science, Interdisciplinary Applications
Shivam Chahar, Pradeep Kumar Roy
Summary: Researchers are conducting various studies to monitor the COVID-19 outbreak, including early symptom identification, estimation of pandemic end times, and examination of user-generated conversations. They have used a variety of datasets and machine learning methods for processing. This article outlines studies on COVID-19 using machine learning and deep learning models and discusses future research directions.
ARCHIVES OF COMPUTATIONAL METHODS IN ENGINEERING
(2022)
Article
Computer Science, Artificial Intelligence
Rabia Saleem, Bo Yuan, Fatih Kurugollu, Ashiq Anjum, Lu Liu
Summary: This paper provides a comprehensive review of global interpretation methods for Explainable Artificial Intelligence (XAI) models, discussing the importance of model explainability and the strengths and weaknesses of different interpretation models. The challenges in implementing these methods are evaluated through examples and case studies. Future research directions and the potential benefits of resolving challenges in global interpretation methods are also presented.
Review
Computer Science, Artificial Intelligence
Weixing Su, Linfeng Li, Fang Liu, Maowei He, Xiaodan Liang
Summary: This paper focuses on the combination of edge computing and artificial intelligence to form edge intelligence. It explores the technologies and implementations for edge training and edge inference, as well as the challenges and future directions in this field.
ARTIFICIAL INTELLIGENCE REVIEW
(2022)
Article
Orthopedics
L. Farrow, M. Zhong, G. P. Ashcroft, L. Anderson, R. M. D. Meek
Summary: The use of artificial intelligence and machine-learning techniques in Trauma & Orthopaedic surgery is becoming more popular, but interpreting the models correctly can be challenging for those without specific knowledge. The lack of reporting standards may lead to significant variability in the design and quality of published studies. This article provides an overview of machine-learning techniques for lay individuals, including key terminology and best practice reporting guidelines.
BONE & JOINT JOURNAL
(2021)
Article
Computer Science, Information Systems
Eun-Hun Lee, Hyeoncheol Kim
Summary: Deep neural networks capture high-level features of data by stacking layers deeply; various studies aim to interpret the knowledge learned by neural networks; a proposed method provides global explanations for deep neural network models through model features.
Article
Medicine, General & Internal
Abin Abraham, Brian Le, Idit Kosti, Peter Straub, Digna R. Velez-Edwards, Lea K. Davis, J. M. Newton, Louis J. Muglia, Antonis Rokas, Cosmin A. Bejan, Marina Sirota, John A. Capra
Summary: Machine learning models based on billing codes from electronic health records can accurately predict singleton preterm birth risk and outperform models trained on known risk factors. These models also stratify deliveries into interpretable groups and predict preterm birth subtypes, mode of delivery, and recurrent preterm birth. This study suggests that machine learning has great potential to improve medical care during pregnancy.
Review
Computer Science, Artificial Intelligence
Sibel Arslan, Celal Ozturk
Summary: Automatic programming is a highly attractive area of artificial intelligence that offers effective solutions to problems with limited knowledge in various applications. This paper aims to provide a comprehensive literature review of AP methods and categorize them based on their solution representations. Additionally, it presents an outlook on future developments and potential challenges for researchers. © 2023 Elsevier B.V. All rights reserved.
APPLIED SOFT COMPUTING
(2023)
Article
Multidisciplinary Sciences
Cristina Rueda, Yolanda Larriba, Adrian Lamela
Summary: This paper introduces a novel method for analysing cardiac rhythm data, providing a meaningful interpretation of the heart's electric system. It offers automatic diagnosis of heart anomalies and other clinical uses with advantages over traditional machine learning procedures. The method has been validated numerically to outperform its competitors in discriminating subjects, characterizing morphologies and detecting fiducial marks.
SCIENTIFIC REPORTS
(2021)
Article
Chemistry, Multidisciplinary
Anoop Chakkingal, Pieter Janssens, Jeroen Poissonnier, Alan J. Barrios, Mirella Virginie, Andrei Y. Khodakov, Joris W. Thybaut
Summary: This study demonstrates the application of machine-learning methods for the data-driven design of chemical reactions using Fischer-Tropsch synthesis as a case study. Through the training of an ANN model, the researchers were able to analyze and reproduce microkinetic data, revealing the strong correlation between methane yield and temperature, space-time, and syngas molar inlet ratio.
REACTION CHEMISTRY & ENGINEERING
(2021)
Article
Gastroenterology & Hepatology
Stephan Buch, Hamish Innes, Philipp Ludwig Lutz, Hans Dieter Nischalke, Jens U. Marquardt, Janett Fischer, Karl Heinz Weiss, Jonas Rosendahl, Astrid Marot, Marcin Krawczyk, Markus Casper, Frank Lammert, Florian Eyer, Arndt Vogel, Silke Marhenke, Johann von Felden, Rohini Sharma, Stephen Rahul Atkinson, Andrew McQuillin, Jacob Nattermann, Clemens Schafmayer, Andre Franke, Christian Strassburg, Marcella Rietschel, Heidi Altmann, Stefan Sulk, Veera Raghavan Thangapandi, Mario Brosch, Carolin Lackner, Rudolf E. Stauber, Ali Canbay, Alexander Link, Thomas Reiberger, Mattias Mandorfer, Georg Semmler, Bernhard Scheiner, Christian Datz, Stefano Romeo, Stefano Ginanni Corradini, William Lucien Irving, Joanne R. Morling, Indra Neil Guha, Eleanor Barnes, M. Azim Ansari, Jocelyn Quistrebert, Luca Valenti, Sacha A. Mueller, Marsha Yvonne Morgan, Jean-Francois Dufour, Jonel Trebicka, Thomas Berg, Pierre Deltenre, Sebastian Mueller, Jochen Hampe, Felix Stickel
Summary: This study identifies rs2242652 in TERT as a novel protective factor for HCC in patients with alcohol-related cirrhosis.
Article
Gastroenterology & Hepatology
Philipp Rausch, Sarah Ellul, Anthea Pisani, Corinna Bang, Trevor Tabone, Claire Marantidis Cordina, Graziella Zahra, Andre Franke, Pierre Ellul
Summary: Background: Microbial communities are believed to influence inflammatory processes in patients with inflammatory bowel disease (IBD), but these effects are often influenced by treatments and rarely studied in treatment-naive patients. Methods: Untreated IBD onset patients and healthy controls were recruited from Malta. Stool samples were collected and analyzed via sequencing to assess microbial communities. Results: Differences in community composition, variability, and diversity were observed between healthy and diseased individuals, but minimal differences were found between newly diagnosed UC and CD cohorts. Network analyses revealed changes in bacterial interactions, suggesting disease-specific alterations in community dynamics. Additionally, microbial community characteristics were identified as predictors for future treatments. Conclusion: Treatment-naive IBD onset patients from Malta show differences in microbial communities compared to healthy individuals, and future treatment options can be predicted based on microbial community characteristics.
INFLAMMATORY BOWEL DISEASES
(2023)
Article
Oncology
Stefanie V. V. Junk, Elke Schaeffeler, Martin Zimmermann, Anja Moericke, Rita Beier, Peter Schuette, Birthe Fedders, Julia Alten, Laura Hinze, Norman Klein, Andreas Kulozik, Martina U. U. Muckenthaler, Rolf Koehler, Arndt Borkhardt, Jayaram Vijayakrishnan, David Ellinghaus, Michael Forster, Andre Franke, Astrid Wintering, Christian P. P. Kratz, Martin Schrappe, Matthias Schwab, Richard S. S. Houlston, Gunnar Cario, Martin Stanulla
Summary: This study analyzed the impact of therapy-related hyperbilirubinemia on the treatment outcome of pediatric patients with acute lymphoblastic leukemia (ALL) and identified the contributing genetic risk factors. The study found that high hyperbilirubinemia had a negative impact on treatment outcome, and the rs6744284 variant in the UGT1A gene cluster was strongly associated with the risk of hyperbilirubinemia.
JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH
(2023)
Article
Endocrinology & Metabolism
Merel A. A. Post, Isis de Wit, Fokje S. M. Zijlstra, Udo F. H. Engelke, Arno van Rooij, John Christodoulou, Tiong Yang Tan, Anna Le Fevre, Danqun Jin, Joy Yaplito-Lee, Beom Hee Lee, Karen J. J. Low, Andrew A. A. Mallick, Katrin Ounap, James Pitt, William Reardon, Mari-Anne Vals, Saskia B. B. Wortmann, Hans J. C. T. Wessels, Melissa Barenfanger, Clara D. M. van Karnebeek, Dirk J. J. Lefeber
Summary: Congenital disorders of glycosylation (CDG) are a diverse group of inherited metabolic disorders, and diagnosing MOGS-CDG can be challenging due to its clinical heterogeneity and lack of detection by transferrin screening. This study clinically characterized ten MOGS-CDG cases, including six previously unreported individuals, and identified a common phenotype characterized by dysmorphic features, developmental delay, muscular hypotonia, seizures, and in some cases vision problems and hypogammaglobulinemia. A quantitative method using liquid chromatography-mass spectrometry was developed to analyze urinary Glc(3)Man and successfully diagnosed MOGS-CDG in all six analyzed cases.
JOURNAL OF INHERITED METABOLIC DISEASE
(2023)
Article
Clinical Neurology
Nils G. Margraf, Justina Dargvainiene, Emily Theel, Frank Leypoldt, Wolfgang Lieb, Andre Franke, Klaus Berger, Jens Kuhle, Gregor Kuhlenbaeumer
Summary: This study investigates the potential of neurofilament light chain (NfL) in serum and cerebrospinal fluid as a biomarker for neurodestruction in status epilepticus. The results suggest that the concentration of NfL is mainly determined by the duration of status epilepticus, rather than the type of status or treatment refractoriness.
JOURNAL OF NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Mio Aerden, Anne-Sophie Denomme-Pichon, Dominique Bonneau, Ange-Line Bruel, Julian Delanne, Benedicte Gerard, Benoit Mazel, Christophe Philippe, Lucile Pinson, Clement Prouteau, Audrey Putoux, Frederic Tran Mau-Them, Eleonore Viora-Dupont, Antonio Vitobello, Alban Ziegler, Amelie Piton, Bertrand Isidor, Christine Francannet, Pierre-Yves Maillard, Sophie Julia, Anais Philippe, Elise Schaefer, Saskia Koene, Claudia Ruivenkamp, Mariette Hoffer, Eric Legius, Miel Theunis, Boris Keren, Julien Buratti, Perrine Charles, Thomas Courtin, Mala Misra-Isrie, Mieke van Haelst, Quinten Waisfisz, Dagmar Wieczorek, Ariane Schmetz, Theresia Herget, Fanny Kortuem, Jasmin Lisfeld, Francois-Guillaume Debray, Nuria C. Bramswig, Isis Atallah, Heidi Fodstad, Guillaume Jouret, Berta Almoguera, Saoud Tahsin-Swafiri, Fernando Santos-Simarro, Maria Palomares-Bralo, Vanesa Lopez-Gonzalez, Maria Kibaek, Pernille M. Torring, Alessandra Renieri, Lucia Pia Bruno, Katrin Ounap, Monica Wojcik, Tzung-Chien Hsieh, Peter Krawitz, Hilde Van Esch
Summary: Haploinsufficiency of TRIP12 causes Clark-Baraitser syndrome, a neurodevelopmental disorder characterized by intellectual disability, epilepsy, autism spectrum disorder, and dysmorphic features. Through GestaltMatcher image analysis based on deep-learning algorithms, a distinct facial gestalt was established. The largest cohort to date of individuals with TRIP12 variants was studied, further defining the associated phenotype and introducing a facial gestalt.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Multidisciplinary Sciences
Younghun Y. Han, Jinyoung J. Byun, Catherine Zhu, Ryan R. Sun, Julia Y. Roh, Heather Cordell, Hyun-Sung A. Lee, Vikram R. Shaw, Sung Wook Kang, Javad Razjouyan, Matthew A. Cooley, Manal M. Hassan, Katherine A. Siminovitch, Trine Folseraas, David Ellinghaus, Annika Bergquist, Simon M. Rushbrook, Andre Franke, Tom H. Karlsen, Konstantinos N. Lazaridis, Katherine A. McGlynn, Lewis R. Roberts, Christopher Amos, Christoph Schramm, David Shapiro, Elizabeth Goode
Summary: This study used multitrait joint analyses to explore the genetic contribution and correlations between various clinical and epidemiological traits associated with PSC. Several new risk loci and potential susceptibility genes such as MANBA and IRF5 were identified, and in silico drug screening provided candidate agents for further investigation of pharmacological effects in PSC.
NATURE COMMUNICATIONS
(2023)
Article
Clinical Neurology
Yasmine Sommerer, Valerija Dobricic, Marcel Schilling, Olena Ohlei, Sanaz Sedghpour Sabet, Tanja Wesse, Janina Fuss, Soeren Franzenburg, Andre Franke, Laura Parkkinen, Christina M. Lill, Lars Bertram
Summary: This study conducted an epigenome-wide association study (EWAS) using DNAm profiles in entorhinal cortex (EC) from AD patients and control brains, and found several genomic loci associated with disease onset and progression. By integrating DNAm levels with mRNA expression data, significant correlations were observed for 6 of the significant CpGs. Additionally, accelerated epigenetic aging was found in the brains of AD patients compared to controls.
ALZHEIMERS RESEARCH & THERAPY
(2023)
Article
Immunology
Hesham ElAbd, Petra Bacher, Andreas Tholey, Tobias L. Lenz, Andre Franke
Summary: The HLA proteins play a crucial role in adaptive immunity by presenting self and foreign peptides to T cells. Genetic variation in the HLA region is associated with many complex diseases, highlighting the importance of specific HLA-presented peptides in disease etiology. Identifying the immunopeptidome, the set of peptides presented by an individual's HLA proteins in vivo, has garnered increasing attention for various reasons, such as cancer immunotherapy, vaccine development, and understanding autoimmunity. Despite significant progress, there are still unanswered questions and challenges in peptide presentation analysis and T cell immunogenicity. Addressing these challenges would enhance our understanding of disease etiology and lead to advancements in vaccine engineering and immunotherapy.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Multidisciplinary Sciences
Nicola de Prisco, Caitlin Ford, Nathan D. Elrod, Winston Lee, Lauren C. Tang, Kai-Lieh Huang, Ai Lin, Ping Ji, Venkata S. Jonnakuti, Lia Boyle, Maximilian Cabaj, Salvatore Botta, Katrin ounap, Karit Reinson, Monica H. Wojcik, Jill A. Rosenfeld, Weimin Bi, Kristian Tveten, Trine Prescott, Thorsten Gerstner, Audrey Schroeder, Chin-To Fong, Jaya K. George-Abraham, Catherine A. Buchanan, Andrea Hanson-Khan, Jonathan A. Bernstein, Aikaterini A. Nella, Wendy K. Chung, Vicky Brandt, Marko Jovanovic, Kimara L. Targoff, Hari Krishna Yalamanchili, Eric J. Wagner, Vincenzo A. Gennarino
Summary: Alternative polyadenylation (APA) generates different transcripts from the same gene by cleaving the pre-mRNA at different poly(A) sites. While most studies focus on APA within the 3' untranslated region (3' UTR), this study shows that CPSF6 insufficiency affects protein levels and leads to a developmental syndrome by deregulating APA throughout the transcript. In neonatal humans and zebrafish larvae, CPSF6 insufficiency alters poly(A) site usage in a pathway-specific manner.
Article
Genetics & Heredity
L. Mauring, S. Puusepp, M. Parik, E. Roomets, R. Teek, T. Reimand, S. Pajusalu, K. Kaljurand, K. Ounap
Summary: In this study, a new autosomal recessive inheritance pattern of Leber's hereditary optic neuropathy (LHON) caused by a missense variant in the DNAJC30 gene was described. The c.152A > G, p.(Tyr51Cys) variant was found to be the most common in patients from Eastern Europe and is believed to be a founder variant. The study reported the first two cases of DNAJC30-linked autosomal recessive LHON in Estonia, with severe loss of central vision and clinical features indistinguishable from mitochondrial LHON.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2023)
Article
Medicine, Research & Experimental
Sally C. Fletcher, Charlotte Hall, Tristan J. Kennedy, Sander Pajusalu, Monica H. Wojcik, Uncaar Boora, Chan Li, Kaisa Teele Oja, Eline Hendrix, Christian A. E. Westrip, Regina Andrijes, Sonia K. Piasecka, Mansi Singh, Mohammed E. El-Asrag, Anetta Ptasinska, Vallo Tillmann, Martin R. Higgs, Deanna A. Carere, Andrew D. Beggs, John Pappas, Rachel Rabin, Stephen J. Smerdon, Grant S. Stewart, Katrin Ounap, Mathew L. Coleman
Summary: Although protein hydroxylation is not well understood, recent research has revealed its role in oxygen sensing and hypoxia biology. JMJD5, a protein hydroxylase essential for mouse embryonic development and viability, has been found to have pathogenic variants that cause severe developmental disorders in humans. These variants affect mRNA splicing, protein stability, and hydroxylase activity, leading to failure to thrive, intellectual disability, and facial dysmorphism. This study contributes to our understanding of the importance of protein hydroxylases in human development and disease.
JOURNAL OF CLINICAL INVESTIGATION
(2023)
Correction
Cardiac & Cardiovascular Systems
Verena Limperger, Gili Kenet, Bettina Kiesau, Max Koether, Malin Schmeiser, Florian Langer, David Juhl, Maria Shneyder, Andre Franke, Ulrich C. Klostermeier, Rolf Mesters, Frank Ruehle, Monika Stoll, Dagmar Steppat, Dorothee Kowalski, Angela Rocke, Piotr Kuta, Tido Bajorat, Antje Torge, Bruno Neuner, Ralf Junker, Ulrike Nowak-Goettl
JOURNAL OF THROMBOSIS AND THROMBOLYSIS
(2023)
Article
Genetics & Heredity
Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A. Micheil Innes, Connie Stumpel, Katrin Ounap, Karit Reinson, Eleanor G. Seaby, Shane McKee, Barbara Burton, Katherine Kim, Johanna M. van Hagen, Quinten Waisfisz, Pascal Joset, Katharina Steindl, Anita Rauch, Dong Li, Elaine H. Zackai, Sarah E. Sheppard, Beth Keena, Hakon Hakonarson, Andreas Roos, Nicolai Kohlschmidt, Anna Cereda, Maria Iascone, Erika Rebessi, Kristin D. Kernohan, Philippe M. Campeau, Francisca Millan, Jesse A. Taylor, Hanns Lochmuller, Martin R. Higgs, Amalia Goula, Birgitta Bernhard, Danita J. Velasco, Andrew A. Schmanski, Zornitza Stark, Lyndon Gallacher, Lynn Pais, Paul C. Marcogliese, Shinya Yamamoto, Nicholas Raun, Taryn E. Jakub, Jamie M. Kramer, Joery den Hoed, Simon E. Fisher, Han G. Brunner, Tjitske Kleefstra
Summary: We studied WDR5, a broadly studied key protein involved in various biological functions. We found rare de novo germline missense variants in WDR5 that are associated with neurodevelopmental disorders. These variants may disrupt interactions of WDR5 with crucial proteins such as RbBP5 and/or KMT2A/C.
HUMAN GENETICS AND GENOMICS ADVANCES
(2023)