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Smit, J.M. (author), Krijthe, J.H. (author), van Bommel, Jasper (author), van Genderen, M. E. (author), Labrecque, J. A. (author), Komorowski, M. (author), Gommers, D.A.M.P.J. (author), Reinders, M.J.T. (author)Artificial intelligence (AI) research in the intensive care unit (ICU) mainly focuses on developing models (from linear regression to deep learning) to predict out-<br/>comes, such as mortality or sepsis [1, 2]. However, there is another important aspect of AI that is typically not framed as AI (although it may be more worthy of the name), which...journal article 2023
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Ghorbani, R. (author), Reinders, M.J.T. (author), Tax, D.M.J. (author)With the progress of sensor technology in wearables, the collection and analysis of PPG signals are gaining more interest. Using Machine Learning, the cardiac rhythm corresponding to PPG signals can be used to predict different tasks such as activity recognition, sleep stage detection, or more general health status. However, supervised...conference paper 2023
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Michielsen, L.C.M. (author), Lotfollahi, Mohammad (author), Strobl, Daniel (author), Sikkema, Lisa (author), Reinders, M.J.T. (author), Theis, Fabian J. (author), Mahfouz, A.M.E.T.A. (author)Single-cell genomics is now producing an ever-increasing amount of datasets that, when integrated, could provide large-scale reference atlases of tissue in health and disease. Such large-scale atlases increase the scale and generalizability of analyses and enable combining knowledge generated by individual studies. Specifically, individual...journal article 2023
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Mourragui, S.M.C. (author), Loog, M. (author), van Nee, Mirrelijn (author), de Wiel, Mark A.van (author), Reinders, M.J.T. (author), Wessels, L.F.A. (author)Motivation: Anti-cancer drugs may elicit resistance or sensitivity through mechanisms which involve several genomic layers. Nevertheless, we have demonstrated that gene expression contains most of the predictive capacity compared to the remaining omic data types. Unfortunately, this comes at a price: gene expression biomarkers are often hard...conference paper 2023
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Kuiper, L.M. (author), Polinder-Bos, Harmke A. (author), Bizzarri, D. (author), Vojinovic, Dina (author), Vallerga, Costanza L. (author), Reinders, M.J.T. (author), Slagboom, P. Eline (author), van den Akker, E.B. (author)Biological age captures a person's age-related risk of unfavorable outcomes using biophysiological information. Multivariate biological age measures include frailty scores and molecular biomarkers. These measures are often studied in isolation, but here we present a large-scale study comparing them. In 2 prospective cohorts (n = 3 222), we...journal article 2023
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Eltager, M.A.M.E. (author), Abdelaal, T.R.M. (author), Charrout, M. (author), Mahfouz, A.M.E.T.A. (author), Reinders, M.J.T. (author), Makrodimitris, S. (author)Deep generative models, such as variational autoencoders (VAE), have gained increasing attention in computational biology due to their ability to capture complex data manifolds which subsequently can be used to achieve better performance in downstream tasks, such as cancer type prediction or subtyping of cancer. However, these models are...journal article 2023
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Bongaerts, Michiel (author), Kulkarni, Purva (author), Zammit, Alan (author), Bonte, Ramon (author), Kluijtmans, Leo A. J. (author), Blom, Henk J. (author), Engelke, Udo F. H. (author), Tax, D.M.J. (author), Ruijter, George J.G. (author), Reinders, M.J.T. (author)Untargeted metabolomics (UM) is increasingly being deployed as a strategy for screening patients that are suspected of having an inborn error of metabolism (IEM). In this study, we examined the potential of existing outlier detection methods to detect IEM patient profiles. We benchmarked 30 different outlier detection methods when applied to...journal article 2023
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Reinders, K.J. (author), Giardina, Giorgia (author), Zurfluh, Florian (author), Ryser, Jurg (author), Hanssen, R.F. (author)In the planning stage of new infrastructure or when designing renovation of existing infrastructure, information about existing slope movements or settlements is essential to make informed design decisions. Interferometric<br/>Synthetic Aperture Radar (InSAR) techniques can be of value to identify these risks in an early stage of a project....journal article 2022
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van Bree, Elisabeth J. (author), Guimarães, Rita L.F.P. (author), Lundberg, Mischa (author), Blujdea, Elena R. (author), Rosenkrantz, Jimi L. (author), White, Fred T.G. (author), Reinders, M.J.T. (author), Holstege, H. (author), Jacobs, Frank M.J. (author)Genome-wide association studies (GWAS) have been highly informative in discovering disease-associated loci but are not designed to capture all structural variations in the human genome. Using long-read sequencing data, we discovered widespread structural variation within SINE-VNTR-Alu (SVA) elements, a class of great ape-specific transposable...journal article 2022
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Maurits, Marc P. (author), Korsunsky, Ilya (author), Raychaudhuri, Soumya (author), Murphy, Shawn N. (author), Smoller, Jordan W. (author), Weiss, Scott T. (author), Huizinga, Thomas W.J. (author), Reinders, M.J.T. (author), van den Akker, E.B. (author)Objective: To facilitate patient disease subset and risk factor identification by constructing a pipeline which is generalizable, provides easily interpretable results, and allows replication by overcoming electronic health records (EHRs) batch effects. Material and Methods: We used 1872 billing codes in EHRs of 102 880 patients from 12...journal article 2022
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van der Lee, S.J. (author), De Rojas, I. (author), Holstege, H. (author), Hulsman, M. (author), Reinders, M.J.T. (author), Tesi, N. (author), van Rooij, Jeroen (author), Zhao, Y. (author), Zhang, X. (author)Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage<br/>genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found...journal article 2022
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Bongaerts, Michiel (author), Bonte, Ramon (author), Demirdas, Serwet (author), Huidekoper, Hidde H. (author), Langendonk, Janneke (author), Wilke, Martina (author), de Valk, Walter (author), Blom, Henk J. (author), Reinders, M.J.T. (author), Ruijter, George J.G. (author)The integration of metabolomics data with sequencing data is a key step towards improving the diagnostic process for finding the disease-causing genetic variant(s) in patients suspected of having an inborn error of metabolism (IEM). The measured metabolite levels could provide additional phenotypical evidence to elucidate the degree of...journal article 2022
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Cordes, Martijn (author), Canté-Barrett, Kirsten (author), van den Akker, E.B. (author), Moretti, Federico A. (author), Kiełbasa, Szymon M. (author), Vloemans, Sandra A. (author), Garcia-Perez, Laura (author), Teodosio, Cristina (author), van Dongen, Jacques J.M. (author), Pike-Overzet, K. (author), Reinders, M.J.T. (author), Staal, F.J.T. (author)T cell development in the mouse thymus has been studied extensively, but less is known regarding T cell development in the human thymus. We used a combination of single-cell techniques and functional assays to perform deep immune profiling of human T cell development, focusing on the initial stages of prelineage commitment. We identified...journal article 2022
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Holstege, H. (author), Hulsman, M.J. (author), Charbonnier, Camille (author), Grenier-Boley, Banjamin (author), Quenez, Olivier (author), Grozeva, Detelina (author), van Rooij, Jeroen G.J. (author), Reinders, M.J.T. (author), van der Lee, S.J. (author)Alzheimer’s disease (AD), the leading cause of dementia, has an estimated<br/>heritability of approximately 70%1. The genetic component of AD has been mainly assessed using genome-wide association studies, which do not capture the risk contributed by rare variants2. Here, we compared the gene-based burden of rare damaging variants in exome...journal article 2022
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Bizzarri, D. (author), Reinders, M.J.T. (author), Beekman, M. (author), Slagboom, P. E. (author), van den Akker, E.B. (author)Background: Missing or incomplete phenotypic information can severely deteriorate the statistical power in epidemiological studies. High-throughput quantification of small-molecules in bio-samples, i.e. ‘metabolomics’, is steadily gaining popularity, as it is highly informative for various phenotypical characteristics. Here we aim to leverage...journal article 2022
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Mokveld, T.O. (author), Al-Ars, Z. (author), Sistermans, Erik A. (author), Reinders, M.J.T. (author)In prenatal diagnostics, NIPT screening utilizing read coverage-based profiles obtained from shallow WGS data is routinely used to detect fetal CNVs. From this same data, fragment size distributions of fetal and maternal DNA fragments can be derived, which are known to be different, and often used to infer fetal fractions. We argue that the...journal article 2022
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Bourgonje, Arno R. (author), Hu, Shixian (author), Spekhorst, Lieke M. (author), Zhernakova, Daria V. (author), Vila, Arnau Vich (author), Li, Yanni (author), Charrout, M. (author), Mahfouz, A.M.E.T.A. (author), Reinders, M.J.T. (author)Background and Aims: Protein profiling in patients with inflammatory bowel diseases [IBD] for diagnostic and therapeutic purposes is underexplored. This study analysed the association between phenotype, genotype, and the plasma proteome in IBD. Methods: A total of 92 inflammation-related proteins were quantified in plasma of 1028 patients...journal article 2022
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Dekker, J.J. (author), van Dongen, Jacques J.M. (author), Reinders, M.J.T. (author), Khatri, Indu (author)The IMGT database profiles the TR germline alleles for all four TR loci (TRA, TRB, TRG and TRD), however, it does not comprise of the information regarding population specificity and allelic frequencies of these germline alleles. The specificity of allelic variants to different human populations can, however, be a rich source of information...journal article 2022
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Smit, J.M. (author), Krijthe, J.H. (author), Gommers, D.A.M.P.J. (author), Kamps, M. J.A. (author), Cornet, A.J. (author), Arbous, M. S. (author), De Bruin, D. P. (author), Van Bommel, J. (author), Reinders, M.J.T. (author)Background: The COVID-19 pandemic continues to overwhelm intensive care units (ICUs) worldwide, and improved prediction of mortality among COVID-19 patients could assist decision making in the ICU setting. In this work, we report on the development and validation of a dynamic mortality model specifically for critically ill COVID-19 patients...journal article 2022
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Zhang, M. (author), Ganz, Andrea B. (author), Rohde, Susan (author), Rozemuller, Annemieke J.M. (author), Bank, Netherlands Brain (author), Reinders, M.J.T. (author), Scheltens, Philip (author), Hulsman, M. (author), Hoozemans, Jeroen J.M. (author), Holstege, H. (author)Introduction: With increasing age, neuropathological substrates associated with Alzheimer's disease (AD) accumulate in brains of cognitively healthy individuals—are they resilient, or resistant to AD-associated neuropathologies?. Methods: In 85 centenarian brains, we correlated NIA (amyloid) stages, Braak (neurofibrillary tangle) stages, and...journal article 2022