• medRxiv  ·  November 22, 2025  ·  Preprint

    Biobank-scale Bayesian TWAS reveals splicing-mediated mechanisms of complex disease.

    Alex Tokolyi, Saikat Banerjee, David A Knowles

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  • bioRxiv  ·  November 10, 2025  ·  Preprint

    Disruption of Cell-Type-Specific Molecular Programs of Medium Spiny Neurons in Autism.

    Guohua Yuan, Varun Suresh, Emilie Wigdor, Yuhan Hao, Rachel Leonard, Marilyn Steyert, Michael Griffiths, Clements Evans, Narjes Rohani, Jakob Weiss, Frederick H. Lassen, Nicole Schafer, Shan Dong, Duncan S. Palmer, Stephan J. Sanders, Tomasz J. Nowakowski.

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  • Nature Biomedical Engineering  ·  November 9, 2025

    Neuroimaging endophenotypes reveal underlying mechanisms and genetic factors contributing to progression and development of four brain disorders.

    Junhao Wen, Ioanna Skampardoni, Ye Ella Tian, Zhijian Yang, Yuhan Cui, Guray Erus, Gyujoon Hwang, Erdem Varol, Aleix Boquet-Pujadas, Ganesh B. Chand, Ilya M. Nasrallah, Theodore D. Satterthwaite, Haochang Shou, Li Shen, Arthur W. Toga, Andrew Zalesky & Christos Davatzikos

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  • bioRxiv  ·  November 5, 2025  ·  Preprint

    Distinct patterns of de novo coding variants contribute to Tourette Syndrome etiology.

    Lingyu Zhan, Dongmei Yu, Franjo Ivankovic, Maria Niarchou, Laura Domenech-Salgado, Cathy L. Barr, Fortu Benarroch, Cathy L. Budman, Danielle C. Cath, Nelson B. Freimer, Helena Garrido, Marco A. Grados, Varda Gross-Tsur, Luis Herrera-Amighetti, Robert A. King, Roger Kurlan, James F. Leckman, Gholson J. Lyon, William M. McMahon, David L. Pauls, Yehuda Pollak, Mary M. Robertson, Roxana Romero, Guy A. Rouleau, Paul Sandor, Harvey S. Singer, Paola Giusti-Rodriguez, Lea K. Davis, Carol A. Mathews, Jeremiah M. Scharf, Roel A. Ophoff

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  • bioRxiv  ·  November 5, 2025  ·  Preprint

    Large-scale discovery of neural enhancers for cis-regulation therapies.

    Troy A. McDiarmid, Nicholas F. Page, Florence M. Chardon, Riza M. Daza, George T. Chen, Michael Kosicki, Lucas M. James, Hannah C. Nourie, Dianne Laboy-Cintron, Arthur S. Lee, Paula Vij, Diego Calderon, Jean-Benoit Lalanne, Beth K. Martin, Kyle Fink, Michael E. Talkowski, Alysson R. Muotri, Benjamin D. Philpot, Len A. Pennacchio, Daniel H. Geschwind, Stephan J. Sanders, Nadav Ahituv, Jay Shendure.

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  • medRxiv  ·  November 5, 2025  ·  Preprint

    Genome-wide association studies of binge-eating behaviour and anorexia nervosa yield insights into the unique and shared biology of eating disorder phenotypes.

    Jet D Termorshuizen, Helena L Davies, Sang-Hyuck Lee, Jessica K Dennis, Christopher Hübel, Jessica S Johnson, Yi Lu, Melissa A Munn-Chernoff, Triinu Peters, Baiyu Qi, Katherine E Schaumberg, Rebecca H Signer, Karanvir Singh, Abigail R ter Kuile, Laura M Thornton, Jiayi Xu, Shuyang Yao, Zeynep Yilmaz, Ruyue Zhang, Johan Zvrskovec, Mohamed Abdulkadir, Ziada Ayorech, Elizabeth C Corfield, Alexandra Havdahl, Kristi Krebs, Taralynn M Mack, Maria Niarchou, Teemu Palviainen, Julia M Sealock, Jessica H Baker, Andrew W Bergen, Andreas Birgegård, Vesna Boraska Perica, Katharina Bühren, Roland Burghardt, Matteo Cassina, Enrico Collantoni, James J Crowley, Unna N Danner, Franziska Degenhardt, Janiece E DeSocio, Christian Dina, Monika Dmitrzak-Węglarz, Laramie E Duncan, Karin M Egberts, Lenka Foretova, Ina Giegling, Fragiskos Gonidakis, Scott D Gordon, Jakob Grove, Sébastien Guillaume, Jerry D Guintivano, Annette M Hartmann, Konstantinos Hatzikotoulas, Stefan Herms, Hartmut Imgart, Susana Jiménez-Murcia, Antonio Julià, Gursharan Kalsi, Deborah Kaminská, Leila J Karhunen, Hannah Kennedy, Kirsty M Kiezebrink, Theresa Kolb, Janne T Larsen, Dong Li, Lisa Lilenfeld, Mario Maj, Morten Mattingsdal, Paolo Meneguzzo, Allison L Miller, Karen S Mitchell, Alessio Maria Monteleone, Catherine M Olsen, Leonid Padyukov, Richard Parker, Michaela Pettie, Dalila Pinto, Anu Raevuori, Samuli Ripatti, Marion E Roberts, Paolo Santonastaso, Androula Savva, Ulrike H Schmidt, Alexandra Schosser, Jochen Seitz, Lenka LS Slachtova, Agnieszka Slopien, Sandro Sorbi, Peter S Straub, Jin P Szatkiewicz, Friederike I Tam, Elena Tenconi, Alfonso Tortorella, Artemis Tsitsika, Annemarie A van Elburg, Gudrun Wagner, Hunna J Watson, Roger AH Adan, Lars Alfredsson, Ole A Andreassen, Helga Ask, Anders Børglum, Harry A Brandt, David Collier, Steven Crawford, Scott Crow, Lea K Davis, Martina de Zwaan, George Dedoussis, Danielle M Dick, Stefan Ehrlich, Xavier Estivill, Angela Favaro, Fernando Fernández-Aranda, Krista Fischer, Andreas J Forstner, Philip Gorwood, Hakon Hakonarson, Johannes Hebebrand, Beate Herpertz-Dahlmann, Anke Hinney, James I Hudson, Craig Johnson, Jennifer Jordan, Allan S Kaplan, Jaakko Kaprio, Andreas FK Karwautz, Martien JH Kas, Walter H Kaye, James L Kennedy, Martin A Kennedy, Anna Keski-Rahkonen, Youl-Ri Kim, Kelly L Klump, Mikael Landén, Stéphanie Le Hellard, Kelli Lehto, Qingqin S Li, Jolanta Lissowska, Jurjen J Luykx, Sarah L Maguire, Nicholas G Martin, Manuel Mattheisen, Sarah E Medland, Philip Mehler, Nadia Micali, James E Mitchell, Palmiero Monteleone, Preben Bo Mortensen, Benedetta Nacmias, Roel A Ophoff, Hana Papezova, Nancy L Pedersen, Liselotte V Petersen, Luisa S Rajcsanyi, Nicolas Ramoz, Ted Reichborn-Kjennerud, Valdo Ricca, Stephan Ripke, Dan Rujescu, Filip Rybakowski, Stephen W Scherer, Margarita CT Slof-Op ‘t Landt, Howard Steiger, Patrick F Sullivan, Beata Świątkowska, Eric F van Furth, Tracey D Wade, Thomas Werge, David C Whiteman, D. Blake Woodside, Ya-Ke Wu, Stephan Zipfel, Eating Disorders Working Group of the Psychiatric Genomics Consortium, Estonian Biobank (EstBB), Cynthia M Bulik, Laura M Huckins, Gerome Breen, Jonathan RI Coleman.

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  • Cold Spring Harbor Perspectives in Biology  ·  November 3, 2025

    Glia in Neurodegenerative Disease.

    Gerard Crowley, David Attwell, Hemali Phatnani, Harald Sontheimer, and Soyon Hong.

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  • bioRxiv  ·  October 30, 2025  ·  Preprint

    Accurately modelling RNase H-mediated antisense oligonucleotide efficacy.

    Barney Hill, Maisie R Jaques, Remya R Nair, Nicola Whiffin, Matthew J. A. Wood, Stephan J Sanders, Peter L Oliver, Alyssa C Hill, Carlo Rinaldi.

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  • American Journal of Psychiatry  ·  October 29, 2025

    Characterizing the Pleiotropic Architecture of Impulsivity and Its Links to Psychopathology and Neurodevelopment.

    Travis T Mallard, Justin D Tubbs, Mariela Jennings, Yingzhe Zhang, Daniel E Gustavson, Andrew D Grotzinger, Margaret L Westwater, Camille M Williams, Rebecca G Fortgang; 23andMe Research Team; Sarah L Elson, Pierre Fontanillas, Lea K Davis, Armin Raznahan, Elliot M Tucker-Drob, Karmel W Choi, Tian Ge, Jordan W Smoller, Abraham A Palmer, Sandra Sanchez-Roige.

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  • bioRxiv  ·  October 27, 2025  ·  Preprint

    Somatic copy number mutations contribute to fitness in transplantation models of spontaneous human breast cancer metastasis

    Hoa Tran, Gurdeep Singh, Hakwoo Lee, Damian Yap, Eric Lee, William Daniels, Farhia Kabeer, Ciara H O’Flanagan, Vinci Au, Michael Van Vliet, Daniel Lai, Elena Zaikova, Sean Beatty, Esther Kong, Shuyu Fan, Jessica Chan, Hoang Quan Dang, Teresa Ruiz de Algaza, Viviana Cerda, Andrew Roth, Samuel Aparicio.

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  • Proceedings of the National Academy of Sciences of the United States of America  ·  October 28, 2025

    Genetic regulation of the estrogen receptor and inherited predisposition to breast cancer.

    Sarah B Pierce, Hannah Kortbawi, Suleyman Gulsuner, Jessica B Mandell, Ming K Lee, Tom Walsh, Mary-Claire King.

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  • bioRxiv  ·  October 21, 2025  ·  Preprint

    APOBEC3A-Induced DNA Damage Drives Polymerase Theta Dependency and Synthetic Lethality in Cancer.

    Abhishek Bose, Weisi Liu, Paul Yoo, Alina Sami, Michal T Boniecki, Madhura Deshpande, Mohamed Osman, Duy Nguyen, Urko D. Castillo, Paraskevi Giannakakou, Bhavneet Bhinder, William Hooper, Olivier Elemento, Nicolas Robine, Milaid Granadillo Rodrigue, Jeannine Gerhardt, Kent W. Mouw, Linda Chelico, Bishoy M. Faltas.

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  • Nature Neuroscience  ·  October 21, 2025

    TDP-43 loss induces cryptic polyadenylation in ALS/FTD.

    Sam Bryce-Smith, Anna-Leigh Brown, Max Z. Y. J. Chien, Dario Dattilo, Puja R. Mehta, Francesca Mattedi, Simone Barattucci, Alla Mikheenko, Matteo Zanovello, Flaminia Pellegrini, Sara Emad El-Agamy, Matthew Yome, Sarah E. Hill, Yue A. Qi, Kai Sun, Eugeni Ryadnov, Yixuan Wan, NYGC ALS Consortium, Jose Norberto S. Vargas, Nicol Birsa, Towfique Raj, Jack Humphrey, Matthew Keuss, Oscar G. Wilkins, Michael Ward, Maria Secrier & Pietro Fratta.

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  • medRxiv  ·  October 13, 2025  ·  Preprint

    Antidepressants are associated with decreased white blood cell counts beyond the effect of statins in individuals with co-morbid depression and coronary artery disease: A longitudinal analysis in the Vanderbilt University Medical Center and All of Us cohorts.

    Kritika Singh, Freida A Blostein, Quinn S Wells, Emily C Hodges, Nancy J. Cox, Lea Davis.

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  • medRxiv  ·  October 13, 2025  ·  Preprint

    Regulatory landscape of Alzheimer′s disease variants in human microglia.

    Chia-Yi Joy Lee, Ashvin Ravi, Tzu-Chieh Huang, Briana Wyman, Ariana Chriss, Jack Humphrey, David A Knowles, Chris Cotsapas, Laura M Huckins, Towfique Raj, Kristen J Brennand.

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  • Thorax  ·  October 15, 2025

    Serum IgA isotypes are associated with percent emphysema, wall thickness and lung function decline.

    Tess Pottinger, Zhonghua Liu, Lili Liu, Kristina L Buschur, Jeffrey L Curtis, Ani Manichaikul, Stephen S Rich, Victor E Ortega, Eugene R Bleecker, Deborah A Meyers, Eric A Hoffman, Benjamin Smith, Jan Novak, Krzysztof Kiryluk, R Graham Barr

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  • Nature Medicine  ·  October 16, 2025

    MRI-based multi-organ clocks for healthy aging and disease assessment.

    The MULTI Consortium, Huizi Cao, Zhiyuan Song, Michael R. Duggan, Guray Erus, Dhivya Srinivasan, Ye Ella Tian, Wenjia Bai, Michael S. Rafii, Paul Aisen, Daniel W. Belsky, Keenan A. Walker, Andrew Zalesky, Luigi Ferrucci, Christos Davatzikos & Junhao Wen.

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  • Nature Biotechnology  ·  August 16, 2025

    Accurate somatic small variant discovery for multiple sequencing technologies with DeepSomatic

    Jimin Park, Daniel E. Cook, Pi-Chuan Chang, Alexey Kolesnikov, Lucas Brambrink, Juan Carlos Mier, Joshua Gardner, Brandy McNulty, Samuel Sacco, Ayse Keskus, Asher Bryant, Tanveer Ahmad, Jyoti Shetty, Yongmei Zhao, Bao Tran, Giuseppe Narzisi, Adrienne Helland, Byunggil Yoo, Irina Pushel, Lisa A. Lansdon, Chengpeng Bi, Adam Walter, Margaret Gibson, Tomi Pastinen, Midhat S. Farooqi, Nicolas Robine, Karen H. Miga, Andrew Carroll, Mikhail Kolmogorov, Benedict Paten, Kishwar Shafin

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  • bioRxiv  ·  October 13, 2025  ·  Preprint

    Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read data.

    Yoo-Jin Jiny Ha, Dominika Maziec, Julia Markowski, Stephanie J Georges, Nancy L Parmalee, Michele Berselli, Tim HH Coorens, Shihua Dong, Stephanie Gardiner, Divya Kalra, Daofeng Li, Benpeng Miao, Rajeeva Musunuri, Liying Xue, Zhi Yu, Kimberly Walker, Lisa Anderson, Natalie YT Au, Carrie Cibulskis, Harsha Doddapaneni, Christopher M Grochowski, Dana M Jensen, Tina Lindsay, Kelsey Loy, Azeet Narayan, Giuseppe Narzisi, Jeffrey Ou, Meranda M Pham, Alexi M Runnels, Andrew B Stergachis, Lila M Sutherlin, Ting Wang, Hu Jin, William C Feng, Yuwei Zhang, Alexander D Veit, Clara TaeHee Kim, Hye-Jung E Chun, Kristin Ardlie, Robert S Fulton, Soren Germer, Richard A Gibbs, Gabor T Marth, James T Bennett, Peter J Park

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  • Mol Psychiatry.  ·  October 13, 2025

    Genome-wide association studies of lifetime and frequency of cannabis use in 131,895 individuals.

    Hayley H A Thorpe, Pierre Fontanillas, John J Meredith, Mariela V Jennings, Renata B Cupertino, Shreya R Pakala; 23andMe Research Team; Sarah L Elson, Jibran Y Khokhar, Lea K Davis, Emma C Johnson, Abraham A Palmer, Sandra Sanchez-Roige.

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  • Nature  ·  October 14, 2025

    Tonic type I interferon signaling optimizes the antiviral function of plasmacytoid dendritic cells.

    Joseph N. Pucella, Raul A. Maqueda-Alfaro, Hai Ni, Fernando Bandeira Sulczewski, Anna Eichinger, Eduardo Esteva, Ai C. Ra, Annesa Das, Oriana A. Perez, Jue Feng, Marlon Stoeckius, Peter Smibert, Alireza Khodadadi-Jamayran, Igor Dolgalev, Ellie Ivanova, Stela Sota, Ken Cadwell, Sergei B. Koralov, Judy Zhong, Chetna Soni, Daniel B. Stetson, Stuart P. Weisberg, Donna L. Farber, Juliana Idoyaga & Boris Reizis.

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