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Whole-genome sequencing of 490,640 UK Biobank participants
(2025-09-18) The UK Biobank Whole-Genome Sequencing Consortium; Illumina; UK Biobank; Sanger (Velsera Seven Bridges); Johnson & Johnson; GSK; Amgen deCode genetics; AstraZeneca; Manuscript Writing Group; Department of Engineering
Whole-genome sequencing provides an unbiased and complete view of the human genome and enables the discovery of genetic variation without the technical limitations of other genotyping technologies. Here we report on whole-genome sequencing of 490,640 UK Biobank participants, building on previous genotyping effort1. This advance deepens our understanding of how genetics associates with disease biology and further enhances the value of this open resource for the study of human biology and health. Coupling this dataset with rich phenotypic data, we surveyed within- and cross-ancestry genomic associations and identified novel genetic and clinical insights. Although most associations with disease traits were primarily observed in individuals of European ancestries, strong or novel signals were also identified in individuals of African and Asian ancestries. With the improved ability to accurately genotype structural variants and exonic variation in both coding and UTR sequences, we strengthened and revealed novel insights relative to whole-exome sequencing2,3 analyses. This dataset, representing a large collection of whole-genome sequencing data that is available to the UK Biobank research community, will enable advances of our understanding of the human genome, facilitate the discovery of diagnostics and therapeutics with higher efficacy and improved safety profile, and enable precision medicine strategies with the potential to improve global health.
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Traumatic birth experience and posttraumatic stress disorder : The psychometric properties of the Icelandic version of the City Birth Trauma Scale (City BiTS)
(2025-09) Sigurðardóttir, Valgerður Lísa; Lýðsdóttir, Linda Bára; Swift, Emma Marie; Department of Psychology
Objective: The aim of this study was to investigate the psychometric properties of the Icelandic City Birth Trauma Scale (City BiTS) and assess the prevalence of childbirth related post-traumatic stress symptoms and post-traumatic stress disorder in the Icelandic population. Methods: The City BiTS was translated to Icelandic and tested for face-validity (n = 6). Data was collected in 2022 in an online cross-sectional survey among mothers 6–12 weeks postpartum (n = 616). Exploratory Factor Analysis (EFA) was used to test the underlying factor structure. Internal consistency was assessed using Cronbach's alpha and McDonald's Omega. Convergent validity was evaluated with Spearmańs rank correlation with Birth Satisfaction Scale Revised (BSS-R) and Edinburgh Postnatal Depression Scale. Discriminant validity was explored through correlations with BSS-R. Mann-Whitney U test and Kruskal-Wallis test was used for assessment of group differences. Dunn's paired tests were conducted for variables with more than two groups. Results: Of 616 women, 15.6 % had traumatic birth experiences and 2.4 % fulfilled the criteria of childbirth-related post-traumatic stress. EFA showed that a two-factor model presented the best fit, comprising birth-related symptoms and general symptoms. Internal consistency of the Icelandic version of City BiTS was good; for birth-related symptoms subscale (α = 0.88, McDonald's omega = 0.91); for general symptoms subscale (α = 0.87, McDonald's omega = 0.89). Conclusions: This version of the City BiTS is the first measurement in Icelandic, assessing childbirth-related PTSD according to DSM-5 criteria and provides a two-factor model for clinical and research purpose. Subsequent research should further validate the two-factor structure across diverse populations and settings.
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Stitching the Gap : Feedback as a Mechanism for Reinforcing Sustainable Fashion Consumption
(2025-09) Arnesen, Sarah Lisa; Larsen, Nils Magne; Wien, Anders Hauge; Sigurðsson, Valdimar; Department of Business and Economics
This paper examines how positive feedback can elicit pride in sustainable fashion consumption and influence two key behavioral outcomes: willingness to buy sustainable fashion products and word-of-mouth endorsement. Drawing on framing theory and existing research on pride as a motivational emotion, we conducted two experimental studies with U.S.-based participants recruited via Prolific. In the first study (N = 403), a 2 (product type: sustainable vs. non-sustainable) × 2 (feedback: positive vs. neutral) between-subjects design showed that positive feedback significantly increased pride only when the product was sustainable. The second study (N = 309) focused solely on sustainable products and confirmed that positive feedback elevated pride, which fully mediated its effects on both behavioral outcomes. These findings demonstrate that positive feedback can be used to strategically reinforce pride and offer a low-cost, scalable mechanism for promoting sustainable behavior in the fashion domain.
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Research priorities in gambling : Findings of a large-scale expert study
(2025-09) Czakó, Andrea; Potenza, Marc N.; Hodgins, David C.; Yu, Shu M.; Wu, Anise M.S.; Jiménez-Murcia, Susana; Bowden-Jones, Henrietta; Billieux, Jo€ El; King, Daniel; Bőthe, Beáta; Stein, Dan J.; Demetrovics, Zsolt; Abarbanel, Brett; Albertella, Lucy; Alexandre, Jean Marc; Allami, Youssef; Aloi, Matteo; Angioletti, Laura; Anthony, Wen L.; Aragay, Núria; Åslund, Cecilia; Auriacombe, Marc; Awo, Larry O.; Baggio, Stéphanie; Baigent, Michael F.; Balodis, Iris M.; Barrault, Servane; Bartczuk, Rafał P.; Battersby, Malcolm; Bellringer, Maria E.; Berman, Anne H.; Bernaldo-De-Quirós, Mónica; Bhad, Roshan; Blaszczynski, Alexander; Boffo, Marilisa; Bonnaire, Céline; Bortolato, Marco; Bouchard, Stephane; Bouchard, Amy E.; Brand, Matthias; Breen, Helen; Brosowski, Tim B.; Browne, Matthew; Buchanan, Tony W.; Buchner, Ursula G.; Bühringer, Gerhard; Buja, Alessandra; Canale, Natale; Carbonneau, Rene; Castrén, Sari; Catania, Maris; Challet-Bouju, Gaëlle; Chapman, Heather A.; Chauchard, Emeline; Honglei Chen, Juliet; Choi, Samwook; Choi, Jung Seok; Chóliz, Mariano; Christensen, Darren R.; Cisneros Örnberg, Jenny; Clark, Luke; Cogliati Dezza, Irene; Columb, David; Corbeil, Olivier; Cornil, Aurélien; Dannon, Pinhas; Davis, Christal N.; Delfabbro, Paul; Derevensky, Jeffrey L.; Devos, Gaëtan; Dixon, Mike J.; Donati, Maria Anna; Dowling, Nicki A.; Dufour, Magali; Dymond, Simon; Echeburúa, Enrique; Egloff, Boris; Ellis, Jennifer D.; Elton-Marshall, Tara; Estévez, Ana; Etuk, Repairer; Fecteau, Shirley; Fernández-Aranda, Fernando; Fineberg, Naomi A.; Fischer, Gabriele; Flack, Mal; Forsström, David; Fortgang, Rebecca G.; Franken, Ingmar H.A.; Frisone, Fabio; Fuss, Johannes; Gainsbury, Sally M.; Gavriel-Fried, Belle; Giannini, Anna M.; García, Montserrat Gómez; González-Cabrera, Joaquín; Goodie, Adam S.; Gori, Alessio; Goudriaan, Anna E.; Grall-Bronnec, Marie; Granero, Roser; Griffiths, Mark D.; Grubbs, Joshua B.; Hahmann, Tara; Håkansson, Anders; Hall, Brian J.; Hamari, Juho; Hao, Wei; Hayer, Tobias; Heirene, Robert M.; Hing, Nerilee; Hopfgartner, Niklas; Hynes, Tristan J.; James, Richard J.E.; Jauregui, Paula; Jeannot, Emilien; Kayser, Andrew S.; Khazaal, Yasser; Kim, Hyoun S.; King, Serena; Kobara, Keiji; Kolandai, Komathi; Kourgiantakis, Toula; Kovács, Ildikó; Kraus, Shane W.; Kraus, Ludwig; Kristiansen, Søren; Kuss, Daria J.; Landon, Jason; LaPlante, Debi A.; Foll, Bernard Le; Ledgerwood, David M.; Lee, Bonnie K.; Lelonek-Kuleta, Bernadeta; Li, En; Lind, Kalle; Lindner, Philip; Linnet, Jakob; Lischer, Suzanne; Lloyd, Joanne; Lloyd, Helen M.; Lochner, Christine; Lopez-Gonzalez, Hibai; Lorenzetti, Valentina; Louderback, Eric R.; Loy, Johanna K.; Luquiens, Amandine; Macey, Joseph; Machimbarrena, Juan M.; Guerrero, Laura Macía; Mallorquí-Bagué, Núria; Månsson, Viktor; Marchica, Loredana A.; Mari, Emanuela; Marmet, Simon; Martinotti, Giovanni; Matheson, Flora I.; Matsushita, Sachio; McDonald, André J.; Mcgrath, Daniel S.; Menchon, Jose; Merkouris, Stephanie S.; Mestre-Bach, Gemma; Mills, Devin J.; Moccia, Lorenzo; Molander, Olof; Molinaro, Sabrina; Morgado, Pedro; Motka, Franziska; Mravcik, Viktor; Munguía, Lucero; Murch, W. Spencer; Navas, Juan F.; Nelson, Sarah E.; Nicklin, Laura L.; Nigro, Giovanna; Nilsson, Anders; Noel, Xavier; Nower, Lia; O’Gara, Colin; Oakes, Jane E.; Pace, Ugo; Pallanti, Stefano; Pallesen, Ståle; Parmar, Arpit; Parke, Jonathan; Parrado-González, Alberto; Passanisi, Alessia; Pavarin, Raimondo M.; Perales, José C.; Peters, Jan; Pfund, Rory A.; Philander, Kahlil S.; Prever, Fulvia; Quaglieri, Alessandro; Rafi, Jonas; Rash, Carla J.; Rawat, Vijay; Richard, Jérémie; Ricijas, Neven; Roberts, Amanda; Rodda, Simone N.; Rogers, Jim; Rogier, Guyonne; Rolando, Sara; Romanczuk-Seiferth, Nina; Ross, Don; Rumpf, Hans Jürgen; Russell, Gillian E.H.; Russell, Alex M.T.; Sacco, Paul; Sagoe, Dominic; Salonen, Anne H.; Samuelsson, Eva; Sanders, James L.; Saunders, John B.; Schaub, Michael P.; Schiavella, Mauro; Schimmenti, Adriano; Schmidt, Casper; Sescousse, Guillaume; Sévigny, Serge; Shaffer, Howard J.; Sharman, Steve; Shi, Jing; Shirk, Steven D.; Sideli, Lucia; Simon, Olivier; Sleczka, Pawel; So, Ryuhei; Stevens, Rhys M.G.; Steward, Trevor; Subramaniam, Mythily; Swanton, Thomas B.; Syvertsen, André; Tabri, Nassim; Takahashi, Hidehiko; Tamburin, Stefano; Tang, So Kum C.; Thériault, Éric R.; Thomas, Shane A.; Thomsen, Kristine R.; Tomei, Alexander; Tong, Kwok Kit; Trujols, Joan; Tse, Samson; Tsurumi, Kosuke; Tulloch, Catherine; Tunney, Richard; Valenciano-Mendoza, Eduardo; van der Maas, Mark; Van Eimeren, Thilo; Van Gordon, William; Van Holst, Ruth J.; Timmeren, Tim Van; Velotti, Patrizia; Vintró-Alcaraz, Cristina; Volberg, Rachel; von Ranson, Kristin M.; Weidacker, Kathrin; Whelan, James P.; Whiting, Seth; Wieczorek, Łukasz; Williams, Robert; Winters, Ken C.; Wohl, Michael J.A.; Worhunsky, Patrick D.; Xiao, Leon Y.; Yokomitsu, Kengo; Yucel, Murat; Zack, Martin H.; Zhang, Meng Xuan; Zink, Alexander; Zoratto, Francesca; Department of Psychology
Abstract: Objective: While gambling is a growing public health concern, research resources are limited, and no guidance is available to prioritise research. This study aimed to identify priorities for gambling research on a global scale using a systematic, transparent, and democratic methodology to inform researchers and other stakeholders. Methods: Leading gambling researchers were invited to list gambling-related research questions that can contribute to strengthening evidence-based policy, prevention, and effective early intervention and treatment of problem gambling. Suggestions were consolidated into research options and evaluated against six criteria (Answerability, Feasibility, Effectiveness, Impact on equity and an additional two based on the category of research options: Novelty and Relevance for description-type, Potential for burden reduction and Deliverability for intervention-related options). Stakeholders (n = 14) assigned relative weights to each criterion, and options were ranked according to their weighted research priority scores. Results: With input from 46.9% of eligible researchers (n = 307) from 35 countries, 1,361 questions were consolidated into 102 options. Evaluations showed strong agreement between experts, and the top 25 priorities were identified. The results highlight the need for further knowledge about the epidemiology, etiology, and consequences of problem gambling. Top-priority topics indicate the importance of focusing on vulnerable and minority groups, youth, significant others, technological innovations, advertisements, the convergence of gaming and gambling, and co-occurring conditions. Evaluating and tailoring existing measures were prioritised more highly than new interventions, and identifying factors underlying treatment seeking, drop-out and relapse was also considered a priority. Conclusions: This initiative successfully involved the global research community in identifying gambling research priorities. The results provide information for researchers and other stakeholders for future projects and funding.
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Research Priorities for Translating Endophenotyping of Adult Obstructive Sleep Apnea to the Clinic An Official American Thoracic Society Research Statement
(2025-09) American Thoracic Society Assembly on Sleep and Respiratory Neurobiology; Department of Engineering
Background: Obstructive sleep apnea (OSA) pathogenesis, clinical manifestations, and consequences vary markedly among patients. Yet OSA heterogeneity goes largely unaddressed in current management pathways, which are characterized by high treatment failure rates of ~50%. Growing knowledge of OSA pathogenesis has stimulated new lines of investigation for therapies targeted to specific underlying mechanisms or “endotypes.” OSA endotypes include the primary anatomic predisposition to pharyngeal collapse, as well as “nonanatomic” mechanisms of low arousal threshold, unstable control of breathing (high loop gain), and impaired pharyngeal dilator muscle function. Identification of interindividual differences in OSA endotypes and disease expression, or “OSA phenotypes,” offers promise for a more targeted approach to OSA management in which appropriate treatments are tailored to individual needs. However, these concepts have largely been limited to the research setting, and more evidence is needed to support clinical translation. Goals: To outline the rationale for clinical use, challenges, and key research priorities required to translate OSA endophenotyping for delivery of a more tailored approach to improve patient care and outcomes. Methods: An international multidisciplinary working group with expertise in OSA epidemiology, pathophysiology, diagnostics, and treatments was convened. The group met at the American Thoracic Society 2024 International Conference to discuss the current state of OSA endophenotyping and required research objectives. This research statement, authored with input from all members, summarizes the group discussion, identified key areas, and research priorities. Results: The working group identified research priorities that cover the spectrum from discovery to translation/implementation, including technical standards, validation, establishment of clinical cutoffs and minimal clinically important differences, generalizability across diverse populations, stability and reproducibility of measurement, prospective study design and conduct, clinical utility, and impact analysis. Conclusions: This research statement provides a road map of the opportunities and key steps required to generate the evidence necessary to translate OSA endophenotyping concepts into clinical care at scale.

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