• Nature  ·  July 23, 2025

    Complex genetic variation in nearly complete human genomes.

    Glennis A. Logsdon, Peter Ebert, Peter A. Audano, Mark Loftus, David Porubsky, Jana Ebler, Feyza Yilmaz, Pille Hallast, Timofey Prodanov, DongAhn Yoo, Carolyn A. Paisie, William T. Harvey, Xuefang Zhao, Gianni V. Martino, Mir Henglin, Katherine M. Munson, Keon Rabbani, Chen-Shan Chin, Bida Gu, Hufsah Ashraf, Stephan Scholz, Olanrewaju Austine-Orimoloye, Parithi Balachandran, Marc Jan Bonder, Haoyu Cheng, Zechen Chong, Jonathan Crabtree, Mark Gerstein, Lisbeth A. Guethlein, Patrick Hasenfeld, Glenn Hickey, Kendra Hoekzema, Sarah E. Hunt, Matthew Jensen, Yunzhe Jiang, Sergey Koren, Youngjun Kwon, Chong Li, Heng Li, Jiaqi Li, Paul J. Norman, Keisuke K. Oshima, Benedict Paten, Adam M. Phillippy, Nicholas R. Pollock, Tobias Rausch, Mikko Rautiainen, Yuwei Song, Arda Söylev, Arvis Sulovari, Likhitha Surapaneni, Vasiliki Tsapalou, Weichen Zhou, Ying Zhou, Qihui Zhu, Michael C. Zody, Ryan E. Mills, Scott E. Devine, Xinghua Shi, Michael E. Talkowski, Mark J. P. Chaisson, Alexander T. Dilthey, Miriam K. Konkel, Jan O. Korbel, Charles Lee, Christine R. Beck, Evan E. Eichler & Tobias Marschall

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  • Cell  ·  July 22, 2025

    SPIDR enables multiplexed mapping of RNA-protein interactions and uncovers a mechanism for selective translational suppression upon cell stress.

    Erica Wolin, Jimmy K. Guo, Mario R. Blanco, Isabel N. Goronzy, Darvesh Gorhe, Wenzhao Dong, Andrew A. Perez, Abdurrahman Keskin, Elizabeth Valenzuela, Ahmed A. Abdou, Carl R. Urbinati, Ross Kaufhold, H. Tomas Rube, Jailson Brito Querido, Mitchell Guttman, Marko Jovanovic

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  • Human Genetics and Genomics Advances  ·  July 18, 2025

    Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndrome.

    Nina Žakelj, David Gosar, Špela Miroševič, Stephan J. Sanders, Alicia Ljungdhal, Sayeh Kohani, Shouhe Huang, Lok I. Leong, Ying An, Miou-Jing Teo, Fiona Moultrie, Roman Jerala, Duško Lainšček, Vida Forstnerič, Petra Sušjan, Leszek Lisowski, Andrea Perez-Iturralde, Jasna Oražem Mrak, Ho Yin Edwin Chan, Damjan Osredkar

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  • Nature Genetics  ·  July 21, 2025

    A contextual genomic perspective on physical activity and its relationship to health, well being and illness.

    Marco Galimberti, Daniel F. Levey, Joseph D. Deak, Keyrun Adhikari, Cassie Overstreet, Priya Gupta, Rachana Nitin, Hang Zhou, Nicole J. Lake, Kelly M. Harrington, Luc Djousse, Lea K. Davis, VA Million Veteran Program, J. Michael Gaziano, Murray B. Stein & Joel Gelernter

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  • Neuron  ·  July 18, 2025

    Accelerating biomedical discoveries in brain health through transformative neuropathology of aging and neurodegeneration.

    Melissa E. Murray, Colin Smith, Vilas Menon, C. Dirk Keene, Ed Lein, Michael Hawrylycz, Adriano Aguzzi, Brett Benedetti, Katja Brose, Kelsey Caetano-Anolles, Maria Inmaculada Cobos Sillero, John F. Crary, Philip L. De Jager, Arline Faustin, Margaret E. Flanagan, Ozgun Gokce, Seth G.N. Grant, Lea T. Grinberg, David A. Gutman, Elizabeth M.C. Hillman, Zhi Huang, David J. Irwin, David T. Jones, Alifiya Kapasi, Celeste M. Karch, Walter T. Kukull, Tammaryn Lashley, Edward B. Lee, Thomas Lehner, Laura Parkkinen, Maria Pedersen, Dominique Pritchett, Matthew H. Rutledge, Julie A. Schneider, William W. Seeley, Claire E. Shepherd, Tara L. Spires-Jones, Judith A. Steen, Margaret Sutherland, Sanja Vickovic, Bin Zhang, David J. Stewart, Michael J. Keiser, Jacob W. Vogel, Brittany N. Dugger, Hemali Phatnani

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  • Nature  ·  July 16, 2025

    Ongoing genome doubling shapes evolvability and immunity in ovarian cancer.

    Andrew McPherson, Ignacio Vázquez-García, Matthew A. Myers, Duaa H. Al-Rawi, Matthew Zatzman, Adam C. Weiner, Samuel Freeman, Neeman Mohibullah, Gryte Satas, Marc J. Williams, Nicholas Ceglia, Danguolė Norkūnaitė, Allen W. Zhang, Jun Li, Jamie L. P. Lim, Michelle Wu, Seongmin Choi, Eliyahu Havasov, Diljot Grewal, Hongyu Shi, Minsoo Kim, Roland F. Schwarz, Tom Kaufmann, Khanh Ngoc Dinh, Florian Uhlitz, Julie Tran, Yushi Wu, Ruchi Patel, Satish Ramakrishnan, DooA Kim, Justin Clarke, Hunter Green, Emily Ali, Melody DiBona, Nancy Varice, Ritika Kundra, Vance Broach, Ginger J. Gardner, Kara Long Roche, Yukio Sonoda, Oliver Zivanovic, Sarah H. Kim, Rachel N. Grisham, Ying L. Liu, Agnes Viale, Nicole Rusk, Yulia Lakhman, Lora H. Ellenson, Simon Tavaré, Samuel Aparicio, Dennis S. Chi, Carol Aghajanian, Nadeem R. Abu-Rustum, Claire F. Friedman, Dmitriy Zamarin, Britta Weigelt, Samuel F. Bakhoum & Sohrab P. Shah

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  • Scientific Data  ·  July 16, 2025

    Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair.

    Jennifer H. McDaniel, Vaidehi Patel, Nathan D. Olson, Hua-Jun He, Zhiyong He, Kenneth D. Cole, Alexander A. Gooden, Anthony Schmitt, Kristin Sikkink, Fritz J. Sedlazeck, Harsha Doddapaneni, Shalini N. Jhangiani, Donna M. Muzny, Marie-Claude Gingras, Heer Mehta, Sairam Behera, Luis F. Paulin, Alex R. Hastie, Hung-Chun Yu, Victor Weigman, Alison Rojas, Katie Kennedy, Jamie Remington, Isai Salas-González, Mitch Sudkamp, Kelly Wiseman, Bryan R. Lajoie, Shawn Levy, Miten Jain, Stuart Akeson, Giuseppe Narzisi, Zoe Steinsnyder, Catherine Reeves, Jennifer Shelton, Sarah B. Kingan, Christine Lambert, Primo Baybayan, Aaron M. Wenger, Ian J. McLaughlin, Aaron Adamson, Christopher Kingsley, Melanie Wescott, Young Kim, Benedict Paten, Jimin Park, Ivo Violich, Karen H. Miga, Joshua Gardner, Brandy McNulty, Gail L. Rosen, Rajiv McCoy, Francesco Brundu, Erfan Sayyari, Konrad Scheffler, Sean Truong, Severine Catreux, Lesley Chapman Hannah, Doron Lipson, Hila Benjamin, Nika Iremadze, Ilya Soifer, Gat Krieger, Stephen Eacker, Mary Wood, Erin Cross, Greg Husar, Stephen Gross, Michael Vernich, Mikhail Kolmogorov, Tanveer Ahmad, Ayse G. Keskus, Asher Bryant, Francoise Thibaud-Nissen, Jonathan Trow, Jacqueline Proszynski, Jeremy Wain Hirschberg, Krista Ryon, Christopher E. Mason, Mital S. Bhakta, J. Zachary Sanborn, Elizabeth M. Munding, Justin Wagner, Chunlin Xiao, Andrew S. Liss & Justin M. Zook

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  • Scientific Reports  ·  July 4, 2025

    Pan-cancer immune and stromal deconvolution predicts clinical outcomes and mutation profiles.

    Bhavneet Bhinder, Verena Friedl, Sunantha Sethuraman, Davide Risso, Kami E. Chiotti, R. Jay Mashl, Kyle P. Ellrott, Jordan A. Lee, Christopher K. Wong, Kofi Gyan, Aditya Deshpande, Marcin Imielinski, Rohan Bareja, Josh Stuart, Myron Peto, Katherine A. Hoadley, Alexander J. Lazar, Andrew D. Cherniack, Jingchun Zhu, Shaolong Cao, Mark Rubin, Wenyi Wang, Oliver F. Bathe, Nicolas Robine, Li Ding, Peter W. Laird, Wanding Zhou, Hui Shen, Vésteinn Thorsson, Jen Jen Yeh, Matthew H. Bailey, Daniel Cui Zhou, Xianlu L. Peng, Mary Goldman, Yongsheng Li, Anil Korkut, Nidhi Sahni, D. Neil Hayes, Michael K. A. Mensah, Ina Felau, Anab Kemal, Samantha Caesar-Johnson, John A. Demchok, Liming Yang, Martin L. Ferguson, Roy Tarnuzzer, Zhining Wang, Jean C. Zenklusen, The Cancer Genome Atlas Analysis Network, Paul Spellman & Olivier Elemento

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  • The Lancet Oncology  ·  July 4, 2025

    African self-sufficiency in cancer control.

    Davidi Tawfiles, Adda Bounedjar, Olusegun Isaac Alatise, T Peter Kingham, Onyinye D Balogun, Miriam Mutebi, Edward Christopher Dee

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  • bioRxiv  ·  July 2, 2025  ·  Preprint

    Perplexity as a Metric for Isoform Diversity in the Human Transcriptome.

    Megan D Schertzer, Stella H Park, Jiayu Su, Gloria M Sheynkman, David A Knowles

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  • Nature  ·  July 2, 2025

    The Somatic Mosaicism across Human Tissues Network.

    Tim H. H. Coorens, Ji Won Oh, Yujin Angelina Choi, Nam Seop Lim, Boxun Zhao, Adam Voshall, Alexej Abyzov, Lucinda Antonacci-Fulton, Samuel Aparicio, Kristin G. Ardlie, Thomas J. Bell, James T. Bennett, Bradley E. Bernstein, Thomas G. Blanchard, Alan P. Boyle, Jason D. Buenrostro, Kathleen H. Burns, Fei Chen, Rui Chen, Sangita Choudhury, Harsha V. Doddapaneni, Evan E. Eichler, Gilad D. Evrony, Melissa A. Faith, Thomas G. Fazzio, Robert S. Fulton, Manuel Garber, Nils Gehlenborg, Soren Germer, Gad Getz, Richard A. Gibbs, Raquel G. Hernandez, Fulai Jin, Jan O. Korbel, Dan A. Landau, Heather A. Lawson, Niall J. Lennon, Heng Li, Yan Li, Po-Ru Loh, Gabor Marth, Michael J. McConnell, Ryan E. Mills, Stephen B. Montgomery, Pradeep Natarajan, Peter J. Park, Rahul Satija, Fritz J. Sedlazeck, Diane D. Shao, Hui Shen, Andrew B. Stergachis, Hunter R. Underhill, Alexander E. Urban, Melissa W. VonDran, Christopher A. Walsh, Ting Wang, Tao P. Wu, Chenghang Zong, Eunjung Alice Lee, Flora M. Vaccarino & The Somatic Mosaicism across Human Tissues Network

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  • Nature Communications  ·  July 1, 2025

    Shared genetic architecture of posttraumatic stress disorder with cardiovascular imaging, risk, and diagnoses.

    Jie Shen, Wander Valentim, Eleni Friligkou, Cassie Overstreet, Karmel W. Choi, Dora Koller, Christopher J. O’Donnell, Murray B. Stein, Joel Gelernter, Posttraumatic Stress Disorder Working Group of the Psychiatric Genomics Consortium, Haitao Lv, Ling Sun, Guido J. Falcone, Renato Polimanti & Gita A. Pathak

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  • Nature Medicine  ·  June 27, 2025

    A reference model of circulating hematopoietic stem cells across the lifespan with applications to diagnostics.

    N. Furer, N. Rappoport, O. Milman, S. Tavor, A. Lifshitz, A. Bercovich, O. Ben-Kiki, A. Danin, M. Kedmi, Z. Shipony, D. Lipson, E. Meiri, G. Yanai, S. Shapira, N. Arber, S. Berdichevsky, J. Tyner, S. Joshi, D. Landau, S. Ganesan, N. Dusaj, P. Chamely, N. Kaushansky, N. Chapal-Ilani, R. Shamir, A. Tanay & L. Shlush

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  • The Lancet Psychiatry  ·  June 26, 2025

    The Psychiatric Genomics Consortium: discoveries and directions.

    Arpana Agrawal, Cynthia M Bulik, Dawit Shawel Abebe, Ole A Andreassen, Elizabeth G Atkinson, Karmel W Choi, Aiden Corvin, Helena L Davies, Lea K Davis, Anna R Docherty, Howard J Edenberg, Barbara Franke, Joel Gelernter, Paola Giusti-Rodríguez, John M Hettema, Jens Hjerling-Leffler, Hailiang Huang, Emma C Johnson, Cathryn M Lewis, Yi Lu, Mary-Ellen Lynall, Joanna Martin, Andrew M McIntosh, Janitza L Montalvo-Ortiz, Niamh Mullins, Caroline M Nievergelt, Kevin S O’Connell, Michael C O’Donovan, Adeniran Okewole, Roseann E Peterson, Danielle Posthuma, Jonathan Sebat, Jordan W Smoller, Reeteka Sud, Biju Viswanath, James T R Walters, Hyejung Won, Naomi R Wray, Patrick F Sullivan; Coordinating Committee of the Psychiatric Genomics Consortium

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  • medRxiv  ·  June 17, 2025  ·  Preprint

    FUS Mislocalization Rewires a Cortical Gene Network to Drive Cognitive and Behavioral Impairment in ALS.

    Raphaelle Cassel, Félicie Lorenc, Aurélie Bombardier, Claudia De Tapia, Stéphane Dieterle, Cláudio Gouveia Roque, Christopher A. Jackson, Geoffrey Stuart-Lopez, Caroline Rouaux, Simon J. Guillot, Marie-Christine Birling, Pascal Kessler, Maurizio Grassano, Bryan Traynor, Adriano Chio, Raju Roy, James Shorter, Fergal M. Waldron, Jenna M. Gregory, Hemali Phatnani, Luc Dupuis, Salim Megat

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  • Prenatal Diagnosis  ·  June 12, 2025

    Prenatally Detected Maternally Inherited Partial Duplication of 11p15.5 ICR1 Results in Phenotypes Overlapping Russell-Silver Syndrome in Infancy.

    Amanda Thomas-Wilson, Mythily Ganapathi, Nina Harkavy, Corbin Schwanke, Jessica Giordano, Abdallah F. Elias, Ronald J. Wapner, Vaidehi Jobanputra

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  • medRxiv  ·  June 11, 2025  ·  Preprint

    GXwasR: A Toolkit for Investigating Sex-Differentiated Genetic Effects on Complex Traits.

    Banabithi Bose, Freida Bolstein, Jeewoo Kim, Jessica Winters, Ky’Era Actkins, David Mayer, Maria Niarchou, Harrshavasan T.S Congivaram, Digna R Velez Edwards, Lea Davis, Barbara Stranger

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  • Alzheimer's & Dementia  ·  June 11, 2025

    GWAS links APOE to neuropsychiatric symptoms in mild cognitive impairment and dementia

    Selina M. Vattathil, Freida Blostein, Tyne W. Miller-Fleming, Lea K. Davis, Alzheimer’s Disease Genetics Consortium (ADGC), Alzheimer’s Disease Neuroimaging Initiative, Thomas S. Wingo, Aliza P. Wingo

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  • medRxiv  ·  June 10, 2025  ·  Preprint

    Unraveling temporal dynamics of the post-mortem transcriptome in amyotrophic lateral sclerosis.

    Ting Shen, Barbara E. Spencer, Pavel P. Kuksa, Vivianna M. Van Deerlin, Hemali Phatnani, NYGC ALS Consortium, Edward B. Lee, Corey T. McMillan

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  • medRxiv  ·  June 4, 2025  ·  Preprint

    Mosaic chromosomal alterations in blood are associated with an increased risk of Alzheimer’s disease.

    Tatsuhiko Naito, Kosei Hirata, Beomjin Jang, Chirag M. Lakhani, Alice Buonfiglioli, Wan-Ping Lee, Otto Valladares, Li-San Wang, Yukinori Okada, Hong-Hee Won, Eirini P. Papapetrou, Samuele G. Marro, David A. Knowles, Towfique Raj

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  • medRxiv  ·  June 2, 2025  ·  Preprint

    Omic Risk Scores are Associated with COPD-related Traits Across Three Cohorts.

    Iain R Konigsberg, Luciana B Vargas, Katherine A Pratte, Daniel E Guzman, Tess D Pottinger, Kristina L Buschur, Thomas W Blackwell, Yongmei Liu, Kent D Taylor, W Craig Johnson, Peter Durda, Russell P Tracy, Ani Manichaikul, Elizabeth C Oelsner, Stacey Gabriel, Namrata Gupta, Suna Onengut-Gumuscu, Joshua D Smith, Francois Aguet, Kristin Ardlie, Usman A Tahir, Robert E Gerszten, Clary Clish, Eugene R Bleecker, Deborah A Meyers, Victor E Ortega, Stephanie A Christenson, Dawn L DeMeo, Brian D Hobbs, Craig P Hersh, Peter J Castaldi, Jeffrey L Curtis, R Graham Barr, Jerome I Rotter, Stephen S Rich, Prescott G Woodruff, Edwin K Silverman, Michael H Cho, Katerina J Kechris, Russell P Bowler, Ethan M Lange, Leslie A Lange, Matthew R Moll, on behalf of the NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium

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