Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification by Maria Zanti, Denise G. O’Mahony, Michael T. Parsons, Leila Dorling, Joe Dennis, Nicholas J. Boddicker, Wenan Chen, Chunling Hu, Marc Naven, Kristia Yiangou, Thomas U. Ahearn, Christine B. Ambrosone, Irene L. Andrulis, Antonis C. Antoniou, Paul L. Auer, Caroline Baynes, Clara Bodelon, Natalia V. Bogdanova, Stig E. Bojesen, Manjeet K. Bolla, Kristen D. Brantley, Nicola J. Camp, Archie Campbell, Jose E. Castelao, Melissa H. Cessna, Jenny Chang-Claude, Fei Chen, Georgia Chenevix-Trench, NBCS Collaborators, Don M. Conroy, Kamila Czene, Arcangela De Nicolo, Susan M. Domchek, Thilo Dörk, Alison M. Dunning, A. Heather Eliassen, D. Gareth Evans, Peter A. Fasching, Jonine D. Figueroa, Henrik Flyger, Manuela Gago-Dominguez, Montserrat García-Closas, Gord Glendon, Anna González-Neira, Felix Grassmann, Andreas Hadjisavvas, Christopher A. Haiman, Ute Hamann, Steven N. Hart, Mikael B. A. Hartman, Weang-Kee Ho, James M. Hodge, Reiner Hoppe, Sacha J. Howell, kConFab Investigators, Anna Jakubowska, Elza K. Khusnutdinova, Yon-Dschun Ko, Peter Kraft, Vessela N. Kristensen, James V. Lacey, Jingmei Li, Geok Hoon Lim, Sara Lindström, Artitaya Lophatananon, Craig Luccarini, Arto Mannermaa, Maria Elena Martinez, Dimitrios Mavroudis, Roger L. Milne, Kenneth Muir, Katherine L. Nathanson, Rocio Nuñez-Torres, Nadia Obi, Janet E. Olson, Julie R. Palmer, Mihalis I. Panayiotidis, Alpa V. Patel, Paul D. P. Pharoah, Eric C. Polley, Muhammad U. Rashid, Kathryn J. Ruddy, Emmanouil Saloustros, Elinor J. Sawyer, Marjanka K. Schmidt, Melissa C. Southey, Veronique Kiak-Mien Tan, Soo Hwang Teo, Lauren R. Teras, Diana Torres, Amy Trentham-Dietz, Thérèse Truong, Celine M. Vachon, Qin Wang, Jeffrey N. Weitzel, Siddhartha Yadav, Song Yao, Gary R. Zirpoli, Melissa S. Cline, Peter Devilee, Sean V. Tavtigian, David E. Goldgar, Fergus J. Couch, Douglas F. Easton, Amanda B. Spurdle, Kyriaki Michailidou

“…We observe 11,207 BRCA1 and BRCA2 variants, with 6909 being coding, covering 23.4% of BRCA1 and BRCA2 VUS in ClinVar and 19.2% of ClinVar curated (likely) benign or pathogenic variants. …”
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Early onset multivalvular disease caused by a missense variant in lamin A/C by Alexandre Janin, Nathalie Gaudreault, Victoria Saavedra Armero, Zhonglin Li, Ran Xu, Dominique K. Boudreau, Lily Frenette, Julien Ternacle, Danielle Tardif, Sébastien Thériault, Philippe Pibarot, Patrick Mathieu, Christian Steinberg, Yohan Bossé

“…Summary: Lamins A/C, coded by LMNA gene, are crucial for nuclear architecture preservation. …”
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Generalised anxiety disorder and its determinants amongst patients with diabetes in primary healthcare clinics: a cross-sectional study in Kuwait City, 2024 by Sana Mubarak Alali, Doaa Khalifa Hussein Abdalla, Aisha Alsaqabi, Hessa Al-Kandari, Ozayr Mahomed

“…Data were collected through self-or interviewer-administered surveys, cleaned and coded in Microsoft Excel, and analysed using STATA version 18. …”
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A Complexity Reduction Method for Intra Prediction Method in HEVC Standard by Zahra Mirian, Mohammadreza Ramezanpour

“…High Efficiency Video Coding (HEVC) is considered the last standard for video compression with about 50% additional compression compared to the previous standard i.e. …”
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Applying Machine Learning Techniques to Identify Undiagnosed Patients with Exocrine Pancreatic Insufficiency by Bruce Pyenson, Maggie Alston, Jeffrey Gomberg, Feng Han, Nikhil Khandelwal, Motoharu Dei, Monica Son, Jaime Vora

“…The most important features in assigning EPI probability were the presence or absence of diagnosis codes related to pancreatic and digestive conditions…”
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A Systematic Review of Interventions to Change Staff Care Practices in Order to Improve Resident Outcomes in Nursing Homes. by Lee-Fay Low, Jennifer Fletcher, Belinda Goodenough, Yun-Hee Jeon, Christopher Etherton-Beer, Margaret MacAndrew, Elizabeth Beattie

“…Intervention components were coded as including education material, training, audit and feedback, monitoring, champions, team meetings, policy or procedures and organizational restructure.…”
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Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability. by Hemant Bengani, Detelina Grozeva, Lambert Moyon, Shipra Bhatia, Susana R Louros, Jilly Hope, Adam Jackson, James G Prendergast, Liusaidh J Owen, Magali Naville, Jacqueline Rainger, Graeme Grimes, Mihail Halachev, Laura C Murphy, Olivera Spasic-Boskovic, Veronica van Heyningen, Peter Kind, Catherine M Abbott, Emily Osterweil, F Lucy Raymond, Hugues Roest Crollius, David R FitzPatrick

“…The absence of another likely causative variant on whole genome sequencing further supported FMR1CRE as the likely basis of the XLID in this family. …”
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Equity in healthcare for coronary heart disease, Wales (UK) 2004-2010: A population-based electronic cohort study. by William King, Arron Lacey, James White, Daniel Farewell, Frank Dunstan, David Fone

“…Evidence of inequity was found for revascularization procedures, although this inequity is likely to have only a modest effect on social gradients in CHD mortality. …”
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Comorbidity patterns and implications for disease control: a network analysis of medical records from Shanghai, China by Yifei Shen, Wenqi Tian, Na Li, Yuhong Niu

“…Male patients were more likely to have comorbidities related to cardiovascular and sleep problems, while women were more likely to have comorbidities related to thyroid disease, inflammatory conditions, and hyperuricemia. …”
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Prevalence of Internet addiction among university students and its impact on general health by Laila Hisham Abdulaziz Alheet, Mira Ali Naeem Harb, Lana H. I. Khaled, Ahmad Saif Bin Sulaiman, Mohammed Hussein Ali M. Baqer Al Attar

“…Medical students were 2.26 times more likely to report distress than nonmedical students (95% confidence interval: 1.20–4.24). …”
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Fitness trade-offs in the evolution of dihydrofolate reductase and drug resistance in Plasmodium falciparum. by Marna S Costanzo, Kyle M Brown, Daniel L Hartl

“…However, a handful of mutations in the gene coding for one such enzyme, dihydrofolate reductase, confer drug resistance. …”
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Examining the availability/findability of stimuli employed in social media and body image research. by David Smailes, Arnela Aleksandra, Megan Coakley, Susan Mair, Joe Ventress

“…We also found no evidence that the sharing of images used as task stimuli had increased over time. We discuss likely reasons for this reticence to share task stimuli in this field, the impact this has on reproducibility, replicability, and research waste, and ways in which this issue can be addressed. …”
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Virus Satellites Drive Viral Evolution and Ecology. by Belén Frígols, Nuria Quiles-Puchalt, Ignacio Mir-Sanchis, Jorge Donderis, Santiago F Elena, Angus Buckling, Richard P Novick, Alberto Marina, José R Penadés

“…In summary, our results suggest that helper and satellite viruses undergo rapid coevolution, which is likely to play a key role in the evolution and ecology of the viruses as well as their prokaryotic hosts.…”
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Nonsignificance misinterpreted as an effect’s absence in psychology: prevalence and temporal analyses by Stephen Lee Murphy, Raphael Merz, Linda-Elisabeth Reimann, Aurelio Fernández

“…In this pre-registered study, we sought to answer these questions by examining the discussion sections of 599 articles published across 10 psychology journals and three time points (2009, 2015 and 2021), and coding whether a nonsignificant finding was interpreted in such a way as to suggest the effect does not exist. …”
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Gender, number and person: a three-way interaction by Berg Thomas

“…According to the principle of informativity, more useful information is more likely to be coded than less useful information. This principle underlies Greenberg’s Universals 37 and 45, which state that a larger number of (sex-based) gender contrasts are on average found in singular than in non-singular forms. …”
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The Impact of Coronavirus Disease 2019 on the Postoperative Complication of Pediatric Orthopedic Surgery: A Multicenter Retrospective Cohort Study by Wen-Yu Jao, Chih-Cheng Lai, Chi-Sheng Chien, Yi-Ju Li

“…Patient cohorts were defined using the International Classification of Diseases, Tenth Revision codes, and Current Procedural Terminology codes and divided into two groups: COVID-19 within 7 days to 1 year before surgery and non-COVID-19. …”
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Effect of bilirubin and Gilbert syndrome on health: cohort analysis of observational, genetic, and Mendelian randomisation associations by Willie Hamilton, Fergus W Hamilton, Nicholas J Timpson, KWM Abeysekera

“…However, only 1701 (3%) of this group had a coded diagnosis of Gilbert syndrome. Variation at this locus explained 37.1% of all variation in measured serum bilirubin. …”
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Host genetic factors and vaccine-induced immunity to hepatitis B virus infection. by Branwen J Hennig, Katherine Fielding, John Broxholme, Mathurin Diatta, Maimuna Mendy, Catrin Moore, Andrew J Pollard, Pura Rayco-Solon, Giorgio Sirugo, Marianne A van der Sande, Pauline Waight, Hilton C Whittle, Syed M Zaman, Adrian V Hill, Andrew J Hall

“…Odds of core-conversion was associated with variation in CD163. A coding change in ITGAL (R719V) with likely functional relevance showed evidence of association with increased peak anti-HBs level in both screens (1st screen: s595_22 GMTratio 1.71, P = 0.013; 2nd screen: s595_22 GMTratio 2.15, P = 0.011).…”
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Automated derivation of diagnostic criteria for lung cancer using natural language processing on electronic health records: a pilot study by Andrew Houston, Sophie Williams, William Ricketts, Charles Gutteridge, Chris Tackaberry, John Conibear

“…Abstract Background The digitisation of healthcare records has generated vast amounts of unstructured data, presenting opportunities for improvements in disease diagnosis when clinical coding falls short, such as in the recording of patient symptoms. …”
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The burden of suicide across different altitudes: 11-year geodemographic analysis conducted in 221 cantons in Ecuador ranging from 0 to 4300 m of elevation by Esteban Ortiz-Prado, Juan S. Izquierdo-Condoy, Raul Fernandez-Naranjo, Jorge Vásconez-González, Sebastián Encalada, Johanna Mosquera, Simone Cordovez, Nicole Camino, Daniela Montenegro-Salazar, Ginés Viscor, Ana María Diaz, Clara Paz

“…Method We conducted an 11-year, country-wide, population-based analysis on age- and gender-standardised suicide rates in Ecuador, based on the official data from the National Institute of Statistics, using all available self-harm death codes (ICD-10 codes X60–X84). Results A total of 11 280 cases of suicide were reported during 2011–2021. …”
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