• Trends in Genetics  ·  August 30, 2025

    A tale of two sociogenomics: shall the twain ever meet?

    Gene E Robinson, Dalton Conley.

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  • bioRxiv  ·  August 27, 2025  ·  Preprint

    Genetics-to-structure multiscale analysis identifies disrupted calcium homeostasis as a mechanism of psychiatric disease.

    Sherif Gerges, Nikolaj Catois Straarup, Mohamed A El-Brolosy, F. Kyle Satterstrom, Nolan Kamitaki, Jiayi Yuan, Emi Ling, Raozhou Lin, Melissa Goldman, Tarjinder Singh, Jonathan S. Weissman, Sabina Berretta, Jen Qian Pan, Hilary Finucane, Charlott Stock, Poul Nissen, Steven A. McCarroll, Mark J. Daly.

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  • Cell Reports  ·  August 25, 2025

    Activation of polo-like kinase 1 correlates with selective motor neuron vulnerability in familial ALS.

    Barbara Szewczyk, Vitaly Zimyanin, Julia Japtok, Aaron Held, Arun Pal, Dajana Großmann, Hannes Glaß, Alexandra V. Jürs, Banaja P. Dash, Maciek Bak, Marcel Naumann, Christiane Hartmann, Olena Kuksenko, René Günther, Tzu-Ting Kao, Katrin Sameith, Andreas Dahl, Jared Sterneckert, Eleonora Aronica, Neil A. Shneider, Andreas Büttner, Alberto Catanese, Hemali Phatnani, Markus Kipp, Brian J. Wainger, Anand Goswami, Andreas Hermann.

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  • Am J Hum Genet.  ·  August 13, 2025

    Leveraging functional annotations to map rare variants associated with Alzheimer disease with gruyere.

    Anjali Das, Chirag Lakhani, Chloé Terwagne, Jui-Shan T Lin, Tatsuhiko Naito, Towfique Raj, David A Knowles.

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  • Genome Medicine  ·  August 20, 2025

    Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism.

    Soo-Whee Kim, Hyeji Lee, Da Yea Song, Gang-Hee Lee, Jae Hyun Han, Jee Won Lee, Hee Jung Byun, Ji Hyun Son, Ye Rim Kim, Yoojeong Lee, Eunjoon Kim, Donna M. Werling, So Hyun Kim, Stephan J. Sanders, Hee Jeong Yoo, Joon-Yong An.

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  • European Heart Journal  ·  August 19, 2025

    LIPA, a risk locus for coronary artery disease: decoding the variant-to-function relationship.

    Fang Li, Elise Flynn, Philip Ha, Mazal N Zebak, Haoxiang Cheng, Chenyi Xue, Jianting Shi, Xun Wu, Ziyi Wang, Yujiao Meng, Jian Cui, Yizhou Zhu, Annie Rozenblyum, Jeana Chun, Antonio Hernandez-Ono, Ali Javaheri, Babak Razani, Marit Westerterp, Robert C Bauer, Yousin Suh, Ke Hao, Tuuli Lappalainen, Hanrui Zhang.

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  • medRxiv  ·  August 16, 2025  ·  Preprint

    Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

    Rocio Rius, Alexander JM Blakes, Yuyang Chen, Joachim De Jonghe, Javeria R Alvi, Florence Amblard, Christina Austin-Tse, Sarah Baer, Meena Balasubramanian, Elsa V Balton, Giulia Barcia, Jonathan A Bernstein, Pierre Blanc, Daniel Buchzik, Daniel G Calame, Benjamin Cogne, Charles Coutton, Chloe A Cunningham, Nitsuh Dargie, Christel Depienne, Katrina M Dipple, Anne Dieux, Abhijit Dixit, Lauren Dreyer, Haowei Du, Salima El Chehadeh, Michael Field, Vanessa Geiger, Richard A Gibbs, Ian Glass, Olivier Grunewald, Paul Gueguen, Tobias B Haack, Hamza Hadj Abdallah, Radu Harbuz, Bertrand Isidor, Marie-Line Jacquemont, Mederic Jeanne, G. Christoph Korenke, Urania Kotzaeridou, Richard J Leventer, James R Lupski, Pierre Marijon, Kaitlin E McGinnis, Rodrigo Mendez, Olfa Messaoud, Caroline Nava, Mevyn Nizard, Anne O’Donnell-Luria, Melanie C O’Leary, Simone Olivieri, Amitav Parida, Davut Pehlivan, Jennifer E Posey, Chloe M Reuter, Veronique Satre, Caroline Schluth-Bolard, Thomas Smol, Tipu Sultan, Christel Thauvin, Julien Thevenon, Eloise Uebergang, Catherine Vincent-Delorme, Evangeline Wassmer, Matthew T Wheeler, Elif Yilmaz Gulec, Adeline Vanderver, Arastoo Vossough, Stephan J Sanders, Siddharth Banka, Gregory M Findlay, Daniel G MacArthur, Cas Simons, Nicola Whiffin.

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  • bioRxiv  ·  August 15, 2025  ·  Preprint

    Uncovering Functional Sequence Gaps in Human Reference Genomes using African Pan Genome Contig Sequences.

    Rachel Martini, Abdulfatai Tijjani, Kyriaki Founta, Daniel Cha, Sebastian Maurice, Jason White, Onyinye Balogun, Melissa B. Davis, Nyasha Chambwe.

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  • medRxiv  ·  August 12, 2025  ·  Preprint

    Genome-wide association study of borderline personality disorder identifies 11 loci and highlights shared risk with mental and somatic disorders.

    Fabian Streit, Swapnil Awasthi, Alisha SM Hall, Alice Braun, Maria Niarchou, Eirini Marouli, Oladapo Babajide, Josef Frank, Lea Zillich, Carolin M Callies, Diana Avetyan, Eric Zillich, Joonas Naamanka, Jean Gonzalez, Arvid Harder, Yi Lu, Zouhair Aherrahrou, Zain-Ul-Abideen Ahmad, Helga Ask, Anthony Batzler, Michael E Benros, Odette M Brand-de Wilde, Soren Brunak, Mie T Bruun, Lea AN Christoffersen, Lucia Colodro-Conde, Brandon J Coombes, Elizabeth C Corfield, Norbert Dahmen, Maria Didriksen, Khoa M Dinh, Srdjan Djurovic, Joseph Dowsett, Ole Kristian Drange, Helene Dukal, Susanne Edelmann, Christian Erikstrup, Mariana K Espinola, Eva Fassbinder, Annika Faucon, Diana S Ferreira de Sa, Jerome C Foo, Maria Gilles, Alfonso Gutierrez-Zotes, Thomas F Hansen, Magnus Haraldsson, R. Patrick Harper, Alexandra Havdahl, Urs Heilbronner, Stefan Herms, Henrik Hjalgrim, Christopher Huebel, Gitta A Jacob, Bitten Aagaard, Anders Jorgensen, Martin Jungkunz, Nikolaus Kleindienst, Nora Knoblich, Stefanie Koglin, Julia Kraft, Kristi Krebs, Christopher W Lee, Yuhao Lin, tefanie Lis, Amanda Lisoway, Ioannis A Malogiannis, Amy Martinsen, Tolou Maslahati, Katharina Merz, Andreas Meyer-Lindenberg, Susan Mikkelsen, Christina Mikkelsen, Arian Mobascher, Gerard Muntane, Asmundur Oddsson, Sisse R Ostrowski, Teemu Palviainen, Ole BV Pedersen, Geir Pedersen, Liam Quinn, Matthias A Reinhard, Florian A Ruths, Bjorn H Schott, Michael Schredl, Emanuel Schwarz, Cornelia E Schwarze, Michael Schwinn, Tabea Send, Engilbert Sigurdsson, Katja Simon-Keller, Astros T Skuladottir, Joaquim Soler, Anne Sonley, Erik Sorensen, Hreinn Stefansson, Peter Straub, Jaana Suvisaari, Martin Tesli, Jacob Traeholt, Henrik Ullum, Maja P Volker, G Bragi Walters, Rujia Wang, Christian C Witt, Gerhard Zarbock, Peter Zill, John-Anker Zwart, DBDS Genomic Consortium NA, Estonian Biobank Research Team NA, the GLAD Study NA, HUNT All-In Psychiatry NA, Ole A Andreassen, Arnoud Arntz, oanna M Biernacka, Martin Bohus, Gerome Breen, Alexander L Chapman, Sven Cichon, Lea K Davis, Michael Deuschle, Sebastian Euler, Sabine C Herpertz, Benjamin Hummelen, Andrea Jobst, Jaakko Kaprio, James L Kennedy, Kelli Lehto, Klaus Lieb, Lourdes Martorell, Shelley McMain, Richard Musil, Vanessa Nieratschker, Markus M Nothen, Frank Padberg, Aarno Palotie, Juan C Pascual, Nader Perroud, Josep A Ramos-Quiroga, View ORCID ProfileTed Reichborn-Kjennerud, Marta Ribases, Stefan Roepke, Dan Rujescu, Sandra Sanchez-Roige, Claudia Schilling, Christian Schmahl, Kari Stefansson, Thorgeir E Thorgeirsson, Gustavo Turecki, Elisabet Vilella, Thomas Werge, Bendik S Winsvold, Johannes Wrege, Marcella Rietschel, Stephan Ripke, Stephanie H Witt.

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  • bioRxiv  ·  August 14, 2025  ·  Preprint

    Paired plus-minus sequencing is an ultra-high throughput and accurate method for dual strand sequencing of DNA molecules.

    Alexandre Pellan Cheng, Itai Rusinek, Aaron Sossin, Adam J. Widman, Eti Meiri, Gat Krieger, Ori Hirschberg, Doron Shem Tov, Shlomit Gilad, Ariel Jaimovich, Omer Barad, Sammantha Avaylon, Srinivas Rajagopalan, Catherine Potenski, Tamara Prieto, Dennis J Yuan, Rob Furatero, Alexi Runnels, Benjamin M. Costa, Jonathan E. Shoag, Majd Al Assaad, Michael Sigouros, Jyothi Manohar, Abigail King, David Wilkes, John Otilano, Murtaza S. Malbari, Olivier Elemento, Juan Miguel Mosquera, Nasser K. Altorki, Ashish Saxena, Margaret K. Callahan, Nicolas Robine, Soren Germer, Gilad Evrony, Bishoy M. Faltas, Dan A Landau.

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  • Nature Communications  ·  August 12, 2025

    Improving reproducibility of differentially expressed genes in single-cell transcriptomic studies of neurodegenerative diseases through meta-analysis.

    Nathan Nakatsuka, Drew Adler, Longda Jiang, Austin Hartman, Evan Cheng, Eric Klann, Rahul Satija.

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  • Science  ·  August 7, 2025

    Predicting expression-altering promoter mutations with deep learning.

    Kishore Jaganathan, Nicole Ersaro, Gherman Novakovsky, Yuchuan Wang, Terena James, Jeremy Schwartzentruber, Petko Fiziev, Irfahan Kassam, Fan Cao, Johann Hawe, Henry Cavanagh, Ashley Lim, Grace Png, Jeremy McRae, Abhimanyu Banerjee, Arvind Kumar, Jacob Ulirsch, Yan Zhang, Francois Aguet, Pierrick Wainschtein, Laksshman Sundaram, Adriana Salcedo, Sofia Kyriazopoulou Panagiotopoulou, Delasa Aghamirzaie, Evin Padhi, Ziming Weng, Shan Dong, Damian Smedley, Mark Caulfield, Anne O’Donnell-Luria, Heidi L Rehm, Stephan J Sanders, Anshul Kundaje, Stephen B Montgomery, Mark T Ross, Kyle Kai-How Farh.

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  • medRxiv  ·  August 7, 2025  ·  Preprint

    Development and validation of electronic health record-based ascertainment of obsessive-compulsive disorder cases and controls.

    Bo Wang, Tyne W Miller-Fleming, Dongmei Yu, Donald Hucks, Emily Gantz, Rebecca Johnston, Angela Maxwell-Horn, Nancy Cox, James Sutcliffe, Carol A Mathews, Evonne McArthur, Helen Hatfield, Dia Kabir, Evan J Giangrande, Rebecca G Fortgang, Shirley B Wang, Rakesh Karmacharya, Joshua L Roffman, Jeremiah M Scharf, Jordan W Smoller, Takahiro Soda, James J Crowley, Lea K Davis.

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  • bioRxiv  ·  August 7, 2025  ·  Preprint

    Non-linear transcriptional responses to gradual modulation of transcription factor dosage.

    Júlia Domingo, Mariia Minaeva, John A. Morris, Samuel Ghatan, Marcello Ziosi, Neville E. Sanjana, Tuuli Lappalainen

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  • Frontiers in Systems Biology  ·  July 2, 2025

    Learning Gaussian Graphical Models from Correlated Data.

    Zeyuan Song, Sophia Gunn, Stefano Monti, Gina Marie Peloso, Ching-Ti Liu, Kathryn Lunetta, Paola Sebastiani.

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  • JAMA Internal Medicine  ·  August 1, 2025

    Diseases Common in Persons With Cystic Fibrosis Among CFTR Heterozygotes.

    Chenjie Zeng, Sangwoo T Han, Thomas A Cassini, Karen S Raraigh, Tam C Tran, James Yang, Garry R Cutting, Joshua C Denny.

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  • Genetics in Medicine  ·  July 2, 2025

    Venous thromboembolism laboratory testing (factor V Leiden and factor II c.∗97G>A), 2025 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

    Benjamin E Kang, Shulin Zhang, Harry Lesmana, Jeffrey Dungan, Kara Reynolds, Saurav Guha, Hunter Best.

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  • Biological Psychiatry: Cognitive Neuroscience and Neuroimaging  ·  August 1, 2025

    Deriving Mendelian Randomization-based Causal Networks of Brain Imaging Phenotypes and Bipolar Disorder.

    Shane O’Connell, Brielin C Brown, Dara M Cannon, Pilib Ó Broin, Nadine Parker, Dag Alnæs, Lars T Westlye, Saikat Banerjee, Leila Nabulsi, Emma Corley, Ole A Andreassen, David A Knowles, Niamh Mullins.

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  • bioRxiv  ·  August 2, 2025  ·  Preprint

    Targeting CyclinD1-CDK6 to Mitigate Senescence-Driven Inflammation and Age-Associated Functional Decline.

    Adarsh Rajesh, Aaron P. Havas, Rouven Arnold, Kathryn Lande, K. Garrett Evensen, Kelly Yichen Li, Sainath Mamde, Qian Yang, Armin Gandhi, Karl N. Miller, Marcos Garcia Teneche, Zoe Yao, Jessica Proulx, Andrew Davis, Laurence Haddadin, Michael Alcaraz, Carolina Cano Macip, Brightany Li, Xue Lei, Charlene Miciano, Elizabeth Smoot, Allen Wang, Jeffrey H. Albrecht, April E. Williams, Bing Ren, Kevin Y. Yip, Peter D. Adams.

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  • American Journal of Respiratory and Critical Care Medicine.  ·  August 2, 2025

    Deficient FANCL Predisposes to Endothelial Damage: A New Therapeutic Target for Pulmonary Hypertension.

    Shiyun Liu, Xiaoqian Shan, Yufei Sun, Haixia Chen, Huazhuo Feng, Shaocong Mo, Changlei Bao, Junqi Zhu, Zizhou Zhang, Feng Wei, Xiuzhen Bai, Ran Xu, Jiaxuan Lai, Haiyun Luo, Chenting Zhang, Xiaoyun Luo, Qian Jiang, Yuqin Chen, Yuqi Zhou, Haiyang Tang, Lei Xu, Wenju Lu, Rong Guo, Chunli Liu, Zifeng Yang, Jason X.-J. Yuan, Xinlin XuXinlin Xu, Dongyi XuDongyi Xu, Jian WangJian Wang, and Kai YangKai Yang.

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