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CANCER  
DIAGNOSTICS  
GENETICS
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Mep12-014 | Integrating Lung Tissue-based Transcriptome-Wide Association Study with Single-cell RNA-sequencing Uncovers Susceptibility Genes and Cell Types Underlying Lung Cancer Risk |
| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.03.19.26348840v1 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.03.19.26348840v1.full-text |
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Shuai Xu Jiajun Shi Bingshan Li Xiao-Ou Shu Ran Tao Hui Cai Wanqing Wen Stephen A Deppen Maizie Xin Zhou Lili Xu Jifeng Wang Jie Wu Yaohua Yang Xingyi Guo Wei Zheng Jirong Long Qiuyin Cai,
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GENETICS
IMMUNE  
LUNG  
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Mge12-004 | Association of genetic variants in the autophagy gene ATG4B with asthma |
| Quote: | This is the first evidence of an association with variants in ATG4B with asthma which provides a novel potential for future drug development.
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| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.03.19.26348866v1 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.03.19.26348866v1.full-text |
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Andrew T DeWan Dyema Nicholson,
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CANCER  
GENETICS
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Mge12-006 | High prevalence of loss of Y chromosome in the spermatozoa of young cancer survivors |
| Quote: | Our findings suggest that LOY in spermatozoa might be a clinically useful marker of GI, reduced fertility and disease predisposition in males. Introducing LOY in spermatozoa as a biomarker opens a new research avenue into disease prevention and the causes and consequences of LOY.
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| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.03.20.26348822v1 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.03.20.26348822v1.full-text |
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Jonatan Axelsson Bozena Bruhn-Olszewska Daniil Sarkysian Ellen Markljung Monika Horbacz Indira Pla Aniel Sanchez Hannah Nenonen Angel Elenkov Jan P Dumanski Aleksander Giwercman,
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CANCER  
GENETICS
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Mge12-024 | Spatio-Temporal Landscape of Whole-Genome DNA Methylation Patterns in Ovarian Cancer |
| Quote: | Our results show that the regulatory methylome is largely established early in tumor progression and remains stable through chemotherapy. Tumors with poor response to treatment are marked by widespread promoter hypermethylation, particularly cancer cells in ascites, leading to epigenetic silencing of pathways targeted by chemotherapy agents.
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| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.03.22.26348877v1 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.03.22.26348877v1.full-text |
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Giovanni Marchi Kari Lavikka Yilin Li Veli-Matti Isoviita Giulia Micoli Daria Afenteva Elsi Pllnen Susanna Holmstrm Antti Hkkinen Elina Valkonen Ilari Maarala Jaakko Astrn Chiara Facciotto Felix Dietlein Sakari Hietanen Taru Muranen Jaana Oikkonen Johanna Hynninen Anni Virtanen Alexandra Lahtinen Sampsa Hautaniemi,
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GENETICS
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Mge12-026 | Integrating 730,947 exome sequences with clinical literature improves gene discovery |
| Quote: | To improve disease gene prediction, we systematically extract gene-disease associations from biomedical literature, map these to gene-level biological features, and integrate both with refined constraint metrics within a Bayesian framework, yielding state-of-the-art prediction of gene-disease relevance. Building on this integration, we define a Discovery Potential DisPo score that highlights genes under strong constraint but limited clinical characterization. High-DisPo genes are enriched in embryonic lethal and fertility phenotypes, supporting DisPo as a tool to prioritize previously under-characterized disease genes.
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| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.03.23.26349081v1 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.03.23.26349081v1.full-text |
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Jeremy Guez Julia K. Goodrich Mikhail A. Moldovan Katherine R. Chao Prathitha Kar Ruchit Panchal Michael W. Wilson Kristen M. Laricchia Greg Rohlicek Dmitry Biba Daniel Marten Qin He Philip W. Darnowsky Riley Grant Ben Weisburd Samantha M. Baxter Joshua Nadeau Wenhan Lu Steve Jahl Sophie Parsa Abdallah Lamane Stephanie DiTroia Jack Fu Xuefang Zhao Elissa Alarmani Charlotte Tolonen Sam Novod Sam Bryant Christine Stevens Sinead B. Chapman Caroline Cusick Christopher Vittal Laura D. Gauthier Jacqueline I. Goldstein Daniel Goldstein Daniel King span classnlm-collab data-hwp-idcollab-1gnomAD Project Consortium Matteo Tranchero William Lotter Daniel G. MacArthur Harrison Brand Vladimir Seplyarskiy Evan Koch Michael E. Talkowski Matthew Solomonson Benjamin M. Neale Anne ODonnell-Luria Hilary K. Finucane Shamil R. Sunyaev Mark J. Daly Heidi L. Rehm Kaitlin E. Samocha Konrad J. Karczewski,
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GENETICS
PSYCHOLOGY  
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Mpy12-022 | Symptom-specific genetics reveal heterogeneity within major depressive disorder |
| Quote: | Conclusions We identified two genetic dimensions of MDD, each linked to partially distinct clinical manifestations and underlying biology, with one reflecting neurodevelopmental/psychiatric liabilities and the other capturing a strong cardiometabolic vulnerability. Disentangling such distinct dimensions may help guide patient stratification and targeted treatment, thereby advancing precision psychiatry.
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| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.03.24.26349158v1 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.03.24.26349158v1.full-text |
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Anastasia A. Goula Floris Huider Jouke-Jan Hottenga Jolle A. Pasman Mariska Bot M. Liset Rietman Leen M. tHart Femke Rutters Marieke T. Blom Didi Rhebergen Marjolein Visser Catharina A. Hartman Albertine J. Oldehinkel Eco J. C. de Geus Barbara Franke H. Susan J. Picavet W.M. Monique Verschuren Hanna M van Loo Dorret I. Boomsma Brenda WJH Penninx Yuri Milaneschi,
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